Pseudoathletic appearance explained

Synonyms:Herculean appearance, Bodybuilder-like appearance
Cause:-->
Risk:-->
Management:-->
Incidence:or
Prevalence:-->
Eponym:-->

Pseudoathletic appearance is a medical sign meaning to have the false appearance of a well-trained athlete due to pathologic causes (disease or injury) instead of true athleticism.[1] It is also referred to as a Herculean or bodybuilder-like appearance.[2] It may be the result of muscle inflammation (immunity-related swelling), muscle hyperplasia, muscle hypertrophy, muscle pseudohypertrophy (muscle atrophy with infiltration of fat or other tissue), or symmetrical subcutaneous (under the skin) deposits of fat or other tissue.

The mechanism resulting in this sign may stay consistent or may change, while the sign itself remains. For instance, some individuals with Duchenne and Becker muscular dystrophy may start with true muscle hypertrophy, but later develop into pseudohypertrophy.[3]

In healthy individuals, resistance training and heavy manual labour creates muscle hypertrophy through signalling from mechanical stimulation (mechanotransduction) and from sensing available energy reserves (such as AMP through AMP-activated protein kinase); however, in the absence of a sports or vocational explanation for muscle hypertrophy, especially with accompanying muscle symptoms (such as myalgia, cramping, or exercise intolerance), then a neuromuscular disorder should be suspected.[4] [5]

As muscle hypertrophy is a response to strenuous anaerobic activity, ordinary everyday activity would become strenuous in diseases that result in premature muscle fatigue (neural or metabolic), or disrupt the excitation-contraction coupling in muscle, or cause repetitive or sustained involuntary muscle contractions (fasciculations, myotonia, or spasticity). In lipodystrophy, an abnormal deficit of subcutaneous fat accentuates the appearance of the muscles, though in some forms the muscles are quantifiably hypertrophic (possibly due to a metabolic abnormality).

Diseases

Skeletal muscle

!Disease grouping!Disease!Muscle(s) typically affected!Age of onset!Biopsy, ultrasonography, CT scan or MRI
Hyperplasia Myostatin-related muscle hypertrophy(MSTN gene)GeneralPrenatal-onsetMyofibre hyperplasia and decreased adipose tissue.
Beckwith–Wiedemann syndromeMacroglossia/hemihypertrophy of limb or bodyPrenatal to infantile-onsetWide phenotypic variability. Macroglossia (enlarged tongue) and hemihyperplasia (enlargement on one side of the body) in general or an isolated limb.[6]
ParasiticDisseminated muscular cysticercosis syndrome[7] General/calf muscleVariablePork tapeworm cysts
Trichinosis[8] GeneralVariableSkeletal muscle inflammation (myositis) secondary to roundworm cysts and larvae.
InflammationInflammatory myopathies (Focal myositis, polymyositis, granulomatous myositis, inclusion body myositis)Calf muscle[9] [10] /general
Sarcoid granulomas/SarcoidosisCalf muscle/generalInflammatory cells and deposits of sarcoid granulomas
Amyloid deposits/Amyloidosis(Inflammatory protein serum amyloid A, or in association with inflammatory diseases)Calf muscle/general[11] Amyloid deposits
OssificationFibrodysplasia ossificans progressiva (formerly known as myositis ossificans progressiva)GeneralEpisodic inflammatory flare-ups involving skeletal muscle (myositis) secondary to muscle tissue turning into bone (ossification)[12]
GeneralEpisodic inflammatory flare-ups involving skeletal muscle (myositis) secondary to muscle tissue turning into bone (ossification)
Muscular dystrophyDuchenne muscular dystrophyCalf muscle/generalChildhood-onsetMuscle hypertrophy may precede pseudohypertrophy by infiltration of fatty tissue
Becker muscular dystrophyCalf muscle/general[13] VariableMuscle hypertrophy may precede pseudohypertrophy by infiltration of fatty tissue
Facioscapulohumeral muscular dystrophyCalf muscle/infraspinatus [14] /deltoid muscles"Poly-hill sign" (hypertrophy and atrophy of shoulder girdle muscles) and "Popeye sign" (atrophy of biceps, but spared forearm).
Myotonic dystrophy types 1 & 2Calf muscle[15] VariableVariable. Calf muscle hypertrophy rare in type 1, EMG showing persistent myotonic discharges in affected muscles. Calf muscle hypertrophy common in type 2 (about 50%), EMG may be normal or show myotonic discharges.
Limb-girdle muscular dystrophy (LGMD)Types R1 (formerly, 2A), R3 (2D), R4 (2E), R5 (2C), R6 (2F), R7 (2G), R8 (2H), R9 (2I), R11 (2K), R12 (2L), R13 (2M), R14 (2N), R15 (2O), R16 (2P), R19 (2T), R20 (2U), R23, R24, R26, R28Calf muscle[16] /macroglossia /generalVariableHypertrophy and/or pseudohypertrophy by fatty infiltration of muscle. Classic dystrophic changes include myonecrosis and regeneration, variations in muscle fibre size, myofibrosis, fatty infiltration.

LGMD1H shows histochemical evidence suggestive of a mitochondrial myopathy and since 2017 was excluded from LGMD (see below under metabolic myopathy).[17] [18]

Muscular dystrophy-dystroglycanopathy (MDDG)(types A2, A4, B1, B2, B5, B6, C2, C3, C4, C5, C7, C8, C9, C12, C14) Calf muscleHypertrophy and/or pseudohypertrophy by fatty infiltration of muscle.[19] [20] [21]
Myopathy, X-linked, with postural muscle atrophy(formerly Emery–Dreifuss muscular dystrophy 6, X-linked)Proximal musclesVariable (late childhood to adult-onset)Muscle hypertrophy precedes muscle atrophy. Biopsy shows myopathic or dystrophic changes, rimmed vacuoles, cytoplasmic bodies, and granulofilamentous material.[22]
Emery–Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)(formerly, LGMD1B)Calf muscle[23] Childhood-onsetCalf muscle hypertrophy. Biopsy shows neurogenic and myopathic changes, including fibre type variation, central nuclei, fibrosis and fatty infiltration. EMG myopathic.
Miyoshi muscular dystrophy 3Calf muscles/extensor digitorum brevis musclesAdult-onsetMuscle hypertrophy and/or pseudohypertrophy by infiltration of fatty tissue. Muscle hypertrophy precedes muscle atrophy.[24]
Myopathy, vacuolar, with CASQ1 aggregatesCalf muscleAdolescence to adult-onsetCalf muscle hypertrophy in some.[25] Muscle biopsy shows vacuoles predominantly in type II (fast-twitch/glycolytic) fibres, rare necrotic fibres, CASQ1-immunopositive inclusions, decreased density of calcium release units, abnormal sarcoplasmic reticulum elements, enlarged terminal cisternae of the sarcoplasmic reticulum, and enlarged vesicles of sarcoplasmic reticulum origin.[26]
Myofibrillar myopathy 8 (MFM8)(PYROXD1 gene)Rectus femoris[27] /calf muscle[28] VariableHypertrophy and/or pseudohypertrophy by infiltration of fatty tissue. Fatty atrophy of muscle common, except the rectus femoris (a thigh muscle) commonly spared or hypertrophic. Pseudohypertrophy of calf muscles. EMG myopathic. Muscle biopsy commonly showed dystrophic changes, myofibrillar inclusions, nemaline rods, internalized nuclei, other myopathic features.
Myofibrillar myopathy 9 with early respiratory failure (MFM9)Calf muscleVariable adult-onset(20s-70s)Calf muscle hypertrophy. EMG myopathic. Muscle biopsy myopathic or dystrophic changes with fibre splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue.[29]
Myofibrillar myopathy 10 (MFM10)Trapezius and latissimus dorsi muscles Childhood to young adult-onsetHypertrophic neck and shoulder girdle muscles. Muscle biopsy shows structural abnormalities, lobulated type I (slow-twitch/oxidative) muscle fibres, irregular intermyofibrillar network, autophagic vacuoles with lipoprotein deposits, and sarcolemmal abnormalities.[30]
Myofibrillar myopathy 11 (MFM11)Calf muscle[31] Childhood-onsetPseudohypertrophic calf muscles (mild fatty infiltration seen on MRI). Biopsy shows type I (slow-twitch/oxidative) fibre predominance, centralized nuclei, core-like lesions, abnormal myofibrillar aggregates or inclusions. EMG myopathic.
Myopathy, distal, Tateyama type (MPDT)Calf muscle[32] Childhood to young adult onsetHypertrophic calf muscles. Atrophy in muscles of hands and feet. Biopsy shows internal nuclei, absence of CAV3 staining, mild variation in fibre size, type I (slow-twitch/oxidative) fibre type predominance. EMG myopathic, low amplitude and short duration MUAPs.
Myopathy, distal, infantile-onsetCalf muscle[33] Infantile-onsetHypertrophic calf muscles. Biopsy shows fibre size variation, increased internal nuclei, degenerating fibres, increased connective tissue and fat. EMG myopathic in affected muscles, normal in peroneal (outer calf) muscles.
Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT)(formerly, LGMD2W)Calf muscle and macroglossia[34] Childhood-onsetHypertrophic calf muscles and enlarged tongue with a small tip (triangle tongue). Biopsy shows dystrophic features with fibre size variation, necrotic fibres, scattered fibrosis and fatty infiltration.[35]
Non-dystrophic myotonias and pseudomyotonias (delayed muscle relaxation)Myotonia congenita(Chloride channelopathy, CLCN1 gene)Calf muscle/general[36] [37] Calf muscle hypertrophy.[38]
Potassium-aggravated myotonia, paramyotonia congenita(Sodium channelopathy, SCN4A gene)Calf muscle/generalMuscle hypertrophy.
Brody disease(formerly, Brody myopathy)Calf muscle[39] Variable Commonly marked variability of muscle fibre size, type II (fast-twitch/glycolytic) muscle fibres may be abnormally increased or decreased, usually increased internal nuclei, rarely nuclear centralization or nuclear clumping. Muscle activity is electrically silent on EMG.
Rippling muscle disease (RMD) types 1 & 2(RMD2 formerly, LGMD1C)Calf muscle/generalMuscle hypertrophy. Muscle activity is electrically silent on EMG.[40] [41]
LipodystrophyFamilial partial lipodystrophy (Köbberling–Dunnigan syndrome)Calf muscle/general[42] [43] Adolescence-onsetHypertrophy of calf muscles
Congenital generalized lipodystrophy(Berardinelli–Seip syndrome)GeneralInfantile-onsetMuscle hypertrophy
Hypertonia(spasticity or rigidity)Spastic cerebral palsyCalf muscle[44] Childhood-onsetaccumulation of hydroxyproline (aminoacid exclusive to collagen) in calf muscles
Stiff-person syndromeTorso/limbsAdult-onsetMuscle hypertrophy and EMG demonstrates co-contraction of agonist and antagonist muscles and/or continuous motor unit activity in affected muscles.[45] [46]
Denervation (pseudo)hypertrophyPeripheral nerve traumatic injuryCalf muscle[47] Variable
Disorders of the anterior horn cells (such as poliomyelitis, spinal muscular atrophy, and Charcot–Marie–Tooth disease)Calf muscleVariable
Radiculopathy (pinched nerve)Calf muscle/thigh muscle[48] Adult-onsetVariable. Hypertrophy or pseudohypertrophy by fatty infiltration of muscle.
Endocrine myopathiesKocher–Debre–Semelaigne syndromeCalf muscle/generalChildhood-onsetMuscle hypertrophy, abnormal glycogen accumulation (impaired glycogenolysis), mucopolysaccharide deposits, atrophy of type II (fast-twitch/glycolytic) muscle fibres. EMG normal or myopathic low amplitude and short MUAPs (motor unit action potentials),[49] decrease in muscle carnitine.[50]
Hoffmann syndromeCalf muscle/generalAdult-onsetVariable (with or without mucoid deposits).[51] [52] Muscle hypertrophy, abnormal glycogen accumulation (impaired glycogenolysis), mucopolysaccharide deposits, atrophy of type II (fast-twitch/glycolytic) muscle fibres, damaged mitochondria. EMG may be normal, neuropathic, myopathic, or mixed type. Decrease in muscle carnitine.
Denervation pseudohypertrophy of calf muscles secondary to diabetic neuropathyCalf muscle[53] Adult-onsetFatty infiltration of calf muscles (pseudohypertrophy) and myofibrosis.
Acromegaly/GigantismGeneralMuscle hypertrophy
Metabolic myopathiesLate-onset Pompe disease (Glycogen storage disease type II)(formerly, LGMD2V)Calf muscle[54] /macroglossia[55] [56] Variable (childhood to adulthood, but not infantile-onset)Calf muscle hypertrophy, abnormal glycogen accumulation within the lysosomes of muscle cells due to impaired glycogenolysis. Macroglossia (enlarged tongue) due to infiltration of fat, or very rarely a benign tumour (pseudohypertrophy). The fatty tissue is seen on MRI as "bright tongue sign."[57]
Cori/Forbes disease (Glycogen storage disease type III)Sternocleidomastoid, trapezius and quadriceps muscles[58] /thigh musclesVariableHypertrophy[59] and pseudohypertrophy.[60] Abnormal glycogen accumulation within the cytosol of muscle cells due to impaired glycogenolysis.
McArdle disease (Glycogen storage disease type V)Calf muscle[61] [62] /quadriceps[63] /deltoid and bicep musclesChildhood-onsetMuscle hypertrophy, lean calf muscles, abnormal glycogen accumulation within the cytosol of muscle cells due to impaired glycogenolysis.[64] EMG normal or myopathic low amplitude, short duration polyphasic MUAPs (motor unit action potentials).[65] [66] EMG results may be dynamic: more likely to be myopathic after 5 minutes of high-intensity isometric exercise.
Muscle glycogen storage disease of unknown etiology in conjunction with dystrophin gene deletion[67] Calf muscleAdult-onset(30s)Calf muscle hypertrophy. Muscle biopsy showed abnormal glycogen accumulation, without dystrophic changes. Histochemical studies were negative for any known disorder of glycogen metabolism. Atrophy of quadriceps (thigh) muscles and hip abductors. EMG showed myopathic changes in the legs, most prominent in the thighs and minimal changes in the arms. Predominance of type IIA (fast-twitch/oxidative) muscle fibres, deficiency of type I (slow-twitch/oxidative) and type IIB muscle fibres (fast-twitch/glycolytic). Histochemistry showed normal phosphorylase and other enzymes. Biochemical studies showed a phosphorylase activity just below normal range, with other activities being normal. Southern blot analysis revealed a deletion of exons 45 to 48 of dystrophin gene, which on Western blotting was shown to produce normal amounts of truncated dystrophin.
Hereditary myopathy with lactic acidosis (HML)(gene ISCU)Calf muscle[68] [69] Childhood-onsetSome have hypertrophy of calf muscles. Upon palpitation, some feel abnormally hard with or without tenderness. Radiological examination showed no infiltration of fatty tissue. Muscle biopsy showed proliferation of type I (slow-twitch/oxidative) muscle fibres, abnormal mitochondrial iron and lipid deposits. Histochemical studies show deficiency of succinate dehydrogenase and aconitase, defective oxidative phosphorylation. Some showed evidence of necrosis and regeneration. EMG is normal or myopathic increased polyphasic MUAPs. EMG results may be dynamic: more likely to have increased polyphasic MUAPs after exercise.
Muscular dystrophy, limb-girdle, type 1H (As of 2017 was excluded from LGMD, but not yet assigned new nomenclature)Calf muscleVariable(teens-50s)Muscle hypertrophy, muscle fibre type variation, ragged red fibres, absence of cytochrome c oxidase staining, evidence of mtDNA deletions, defective oxidative phosphorylation suggestive of mitochondrial myopathy.
Malnutrition(poor diet, malabsorption diseases, or drug side effect such as lipase inhibitor Orlistat)[70] Vitamin D deficiency myopathy(also known as osteomalacic myopathy)Calf muscleAdult-onset (no rickets)Muscle hypertrophy in rare cases. Commonly abnormal glycogen accumulation (impaired glycogenolysis), atrophy of type II (fast-twitch/glycolytic) muscle fibres, enlarged inter-fibrillar spaces;[71] [72] rarely infiltration of fat (pseudohypertrophy), and fibrosis. EMG myopathic low amplitude, short duration polyphasic MUAPs (motor unit action potentials).
Vitamin D deficiency myopathy secondary to Celiac diseaseCalf muscleAdult-onset(no rickets)
Congenital myopathiesCentral core diseaseCalf muscle
Centronuclear myopathyCalf muscle
Congenital myopathy 5 with cardiomyopathy (CMYP5)Calf muscle[73] Infantile-onsetHypertrophic calf muscles. Biopsy shows centralized nuclei, type I (slow-twitch/oxidative) fibre predominance, mini core-like lesions with mitochondrial depletion and sarcomeric disorganization. Dystrophic changes more apparent in second decade.
Congenital myopathy 9B, proximal, with minicore lesionsCalf muscleInfantile-onsetPseudohypertrophy due to fatty infiltration. Biopsy shows type I (slow-twitch/oxidative) fibre predominance, increased internal nuclei, Z-band streaming, and minicores that disrupt the myofibrillar striation pattern.[74]
Congenital myopathy 24 (CMYP24)(formerly, nemaline myopathy 11, autosomal recessive)Calf muscle[75] Childhood-onsetCalf muscle pseudohypertrophy. Biopsy shows fibre size variation, type I (slow-twitch/oxidative) fibre predominance, cytoplasmic and intranuclear nemaline bodies. MRI shows fatty infiltration of tongue, back, thigh and calf muscles. EMG shows chronic denervation and myopathy.[76]
Tubular aggregate myopathy types 1 & 2(genes STIM1, ORAI1)Calf muscle[77] Typically childhood-onsetHypertrophy of type I and type II muscle fibres, type I (slow-twitch/oxidative) fibre predominance, fatty infiltration of affected muscles, tubular aggregates (TAs) mainly in type I fibres arranged in honeycomb-like structures (transversal sections) or aligned in parallel (longitudinal sections), internal nuclei, particulate glycogen scattered between tightly packed tubules, occasional lipofuscin granules within large TAs, EMG normal to myopathic.[78] Muscle oedema and fibrosis may accompany fatty infiltration.[79]
Myosin myopathies and Laing distal myopathy(gene MYH7)Laing distal myopathy(Myopathy, distal, 1; MPD1)Calf muscle[80] [81] Variable. Typically childhood-onsetWide phenotypic variability. Typically hypertrophic calf muscles, atrophy of anterior compartment tibial muscles, predominance of type I fibres and numerous small type I fibres. Common are internal nuclei, structural abnormalities (especially minicores), and mitochondrial abnormalities (ragged red fibres). Rarely muscle necrosis, protein aggregates, rimmed vacuoles, filamentous inclusions, muscle atrophy with fat or connective tissue replacement (pseudohypertrophy), cytoplasmic bodies, and myofibrillar alterations. EMG myopathic or neurogenic.
Myosin storage myopathy(Congenital myopathy 7A, myosin storage; CMYP7A)Calf muscle[82] Variable. Typically childhood-onsetWide phenotypic variability. Typically fatty infiltration of calf muscles (pseudohypertrophy), type I (slow-twitch/oxidative) fibre predominance, type I fibres have abnormalities (hyaline bodies and myosin protein aggregates), and generalized muscle atrophy. Other variable muscle biopsy findings may be seen in addition. EMG is myopathic.
TumoursInfiltrating lipomaCalf musclePseudohypertrophy
SarcomaPseudohypertrophy
VascularIntramuscular hematoma due to inherited or acquired coagulopathyMuscle swollen due to intramuscular bleeding and impaired blood clotting.
Diabetic muscle infarctionQuadricepsAdult-onsetCommonly in the thigh (quadriceps). Short-term, painful swelling of the muscle that is firm and warm to the touch. Muscle biopsy shows necrosis and oedema.
Compartment syndrome (Acute or chronic exertional)Calf muscles/generalAdult-onsetMuscle swelling due to increased internal pressure from bleeding and inflammatory reactions. Muscle swelling in chronic exertional compartment syndrome relieves with rest. Acute compartment syndrome due to injury requires surgery.[83]
Short statureMyhre syndrome (chronic denervation hypertrophy secondary to primary disease)GeneralChildhood-onsetMuscle hypertrophy
Schwartz-Jampel syndromeInfantile-onsetMuscle hypertrophy[84]
Uruguay faciocardiomusculoskeletal syndromeEarly childhood-onsetMuscle hypertrophy[85]
Nivelon-Nivelon-Mabille syndromePrenatal-onsetMuscle hypertrophy in some[86]
Satoyoshi syndromeGeneralChildhood to early adolescence-onsetMuscle hypertrophy[87]
Stormorken syndrome(gene STIM1)Calf muscleChildhood-onsetFatty infiltration of affected muscles, tubular aggregates (TAs) mainly in type I (slow-twitch/oxidative) fibres arranged in honeycomb-like structures (transversal sections) or aligned in parallel (longitudinal sections), type I (slow-twitch/oxidative) muscle fibre predominance, internal nuclei,
Exclusively facial musclesMasseter muscle hypertrophyMasticatory musclesAdolescence-onsetMuscle hypertrophy of the masticatory muscles (used for chewing food)[88]
Hemifacial myohyperplasia (HMH)Unilateral facial expression muscles and/or masticatory musclesPrenatal-onsetUnilateral (one side of the face) hyperplasia in the muscles controlling facial expression and/or mastication (chewing)[89]
OtherSyringomyelia(cyst or cavity within spinal cord)Upper limbs/calf muscle[90] Muscle hypertrophy
Peripheral nerve hyperexcitability syndromes(Neuromyotonia, Morvan syndrome, Benign fasciculation syndrome, Cramp fasciculation syndrome) Upper limbs/calf muscleMuscle hypertrophy
Episodic ataxia, type 1 (EA1)(Episodic ataxia with myokymia; EAM)

(Potassium channelopathy, gene KCNA1)

Calf muscle[91] Childhood-onsetCalf muscle hypertrophy. EMG shows polyphasic continuous motor unit discharges. Muscle biopsy shows enlargement of type I muscle fibres, consistent with denervation.
Myasthenic syndrome, congenital, 23, presynaptic (CMS23)Calf muscle[92] Infantile-onsetCalf muscle hypertrophy. EMG shows abnormal jitter. Biopsy normal or non-specific myopathic features.
Strongman syndrome(Muscle hypertrophy syndrome, myalgic)GeneralChildhood-onsetMuscle hypertrophy[93] [94]
Hypertrophia musculorum vera(Latin for true muscle hypertrophy)Calf muscle/masseter muscle[95] [96] Variable. Typically adult-onset (early 20s)Calf muscle hypertrophy, there may also be hypertrophy of masseter muscles (used for chewing food). Muscle biopsy of affected muscles shows hypertrophy of muscle fibres with occasional central migration of sarcolemmal nuclei. EMG of affected muscles is myopathic.
Habitual toe walking secondary to autism spectrum disorderCalf muscleChildhood-onsetMuscle hypertrophy

Skin and other non-muscle tissue

!Disease grouping!Disease!Body part(s) typically affected!Age of onset!Biopsy, ultrasonography, CT scan or MRI
LipomatosisMadelung diseaseUpper trunkAdult-onsetSymmetrical subcutaneous adipose tissue (unencapsulated lipomas)
Parasitic Disseminated cysticercosisSkin/GeneralVariablePork tapeworm cysts
Inflammation of the jointAmyloidosisshoulders "shoulder pad sign"[97] Adult-onsetAmyloid deposits, significant thickening of the subdeltoid bursa
Synovial fluid leakBurst Baker's cystCalf[98] Adult-onsetSwelling of the calf due to synovial fluid leaking into it from a burst Baker's cyst.
Phlebetic lymphedemaVenous thrombosis/ Post-thrombotic syndromeLower extremitiesAdult-onsetSwelling of the legs with discolouration of the skin (darkening or reddening) due to a blood clot in a deep vein and subsequent swelling of lymphatic system.
Chronic venous insufficiencyLower extremitiesAdult-onsetSwelling of the legs, with possible discolouration of the skin (darkening or reddening). Swelling and discolouration is most prominent towards the direction of gravity (foot/ankle when standing). Depending on severity, the calf and thigh may appear swollen. Skin conditions can develop such as venous ulcers, lipodermatosclerosis, and stasis dermatitis.

See also

References

  1. Cheng . Chun-Yu . 2023-01-11 . Pseudo-athletic appearance from excess alcohol use . BMJ . en . 380 . e072885 . 10.1136/bmj-2022-072885 . 255570540 . 1756-1833. free .
  2. Web site: Myotonia Congenita - Symptoms, Causes, Treatment NORD . 2023-06-12 . rarediseases.org . en-US.
  3. Kornegay . Joe N. . Childers . Martin K. . Bogan . Daniel J. . Bogan . Janet R. . Nghiem . Peter . Wang . Jiahui . Fan . Zheng . Howard . James F. . Schatzberg . Scott J. . Dow . Jennifer L. . Grange . Robert W. . Styner . Martin A. . Hoffman . Eric P. . Wagner . Kathryn R. . February 2012 . The Paradox of Muscle Hypertrophy in Muscular Dystrophy . Physical Medicine and Rehabilitation Clinics of North America . 23 . 1 . 149–xii . 10.1016/j.pmr.2011.11.014 . 1047-9651 . 5951392 . 22239881.
  4. Walters . Jon . October 2017 . Muscle hypertrophy and pseudohypertrophy . Practical Neurology . 17 . 5 . 369–379 . 10.1136/practneurol-2017-001695 . 1474-7766 . 28778933. free .
  5. Nadaj-Pakleza . Aleksandra . 2022-07-01 . Muscle hypertrophy: indicative of good health or disease? / Hypertrophie musculaire: signe de bonne santé ou de maladie ? . Les Cahiers de Myologie . fr, en . 25 . 10–15 . 10.1051/myolog/202225004 . 2108-2219. free .
  6. Web site: BECKWITH-WIEDEMANN SYNDROME; BWS . 2023-09-01 . www.omim.org . en-us.
  7. Kumar . Sunil . Jain . Shraddha . Kashikar . Shivali . December 2012 . Herculean appearance due to disseminated cysticercosis: case report . Asian Pacific Journal of Tropical Medicine . 5 . 12 . 1007–1008 . 10.1016/S1995-7645(12)60192-8 . 2352-4146 . 23199724. free .
  8. Web site: Large Muscles . 2023-07-03 . neuromuscular.wustl.edu.
  9. Mangaraj . Swayamsidha . Sethy . Ganeswar . 2014 . Hoffman's syndrome – A rare facet of hypothyroid myopathy . Journal of Neurosciences in Rural Practice . 5 . 4 . 447–448 . 10.4103/0976-3147.140025 . 0976-3147 . 4173264 . 25288869 . free .
  10. Reimers . C. D. . Schlotter . B. . Eicke . B. M. . Witt . T. N. . November 1996 . Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature . Journal of the Neurological Sciences . 143 . 1–2 . 46–56 . 10.1016/s0022-510x(96)00037-8 . 0022-510X . 8981297. 25971689 .
  11. Lawson . Thomas M. . Bevan . Martin A. . Williams . Bryan D. . August 2002 . Clinical images: Skeletal muscle pseudo-hypertrophy in myeloma-associated amyloidosis . Arthritis and Rheumatism . 46 . 8 . 2251 . 10.1002/art.10422 . 0004-3591 . 12209535.
  12. Pignolo . Robert J. . Shore . Eileen M. . Kaplan . Frederick S. . 2011-12-01 . Fibrodysplasia ossificans progressiva: clinical and genetic aspects . Orphanet Journal of Rare Diseases . 6 . 80 . 10.1186/1750-1172-6-80 . 1750-1172 . 3253727 . 22133093 . free .
  13. de Visser . Marianne . 2020-12-01 . Late-onset myopathies: clinical features and diagnosis . Acta Myologica . 39 . 4 . 235–244 . 10.36185/2532-1900-027 . 1128-2460 . 7783434 . 33458579.
  14. M . Suhas . S . Patil . S . Nayak . 2019-10-01 . Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype . Journal of Medical and Scientific Research . en . 7 . 4 . 120–122 . 10.17727/jmsr.2019/7-21. free .
  15. Anegawa . T. . Namamura . M. . Hara . K. . Yamamoto . K. . October 1993 . [True muscle hypertrophy of the unilateral calf in congenital myotonic dystrophy--a case report] ]. Rinsho Shinkeigaku = Clinical Neurology . 33 . 10 . 1100–1102 . 0009-918X . 8293616.
  16. Chu . Mary Lynn . Moran . Ellen . October 2018 . The Limb–Girdle Muscular Dystrophies: Is Treatment on the Horizon? . Neurotherapeutics . 15 . 4 . 849–862 . 10.1007/s13311-018-0648-x . 1933-7213 . 6277288 . 30019308.
  17. Bisceglia . Luigi . Zoccolella . Stefano . Torraco . Alessandra . Piemontese . Maria Rosaria . Dell'Aglio . Rosa . Amati . Angela . De Bonis . Patrizia . Artuso . Lucia . Copetti . Massimiliano . Santorelli . Filippo Maria . Serlenga . Luigi . Zelante . Leopoldo . Bertini . Enrico . Petruzzella . Vittoria . June 2010 . A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H . European Journal of Human Genetics . 18 . 6 . 636–641 . 10.1038/ejhg.2009.235 . 1018-4813 . 2987336 . 20068593.
  18. Straub . Volker . Murphy . Alexander . Udd . Bjarne . LGMD workshop study group . August 2018 . 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017 . Neuromuscular Disorders . 28 . 8 . 702–710 . 10.1016/j.nmd.2018.05.007 . 1873-2364 . 30055862. 51865029 . 10138/305127 . free .
  19. Web site: Phenotypic Series - PS236670 - OMIM . 2023-09-30 . omim.org.
  20. Web site: Phenotypic Series - PS613155 - OMIM . 2023-07-03 . www.omim.org.
  21. Web site: Phenotypic Series - PS609308 - OMIM . 2023-09-30 . omim.org.
  22. Web site: #300696 - MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA . 2023-07-03 . omim.org . en-us.
  23. van der Kooi . A. J. . Ledderhof . T. M. . de Voogt . W. G. . Res . C. J. . Bouwsma . G. . Troost . D. . Busch . H. F. . Becker . A. E. . de Visser . M. . May 1996 . A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement . Annals of Neurology . 39 . 5 . 636–642 . 10.1002/ana.410390513 . 0364-5134 . 8619549. 1765/58319 . free .
  24. Web site: #613319 - MIYOSHI MUSCULAR DYSTROPHY 3; MMD3 . 2023-07-03 . omim.org . en-us.
  25. Di Blasi . Claudia . Sansanelli . Serena . Ruggieri . Alessandra . Moriggi . Manuela . Vasso . Michele . D'Adamo . Adamo Pio . Blasevich . Flavia . Zanotti . Simona . Paolini . Cecilia . Protasi . Feliciano . Tezzon . Frediano . Gelfi . Cecilia . Morandi . Lucia . Pessia . Mauro . Mora . Marina . September 2015 . A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia . Journal of Medical Genetics . 52 . 9 . 617–626 . 10.1136/jmedgenet-2014-102882 . 1468-6244 . 26136523. 24276340 .
  26. Web site: #616231 - MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA . 2023-07-03 . omim.org . en-us.
  27. Sainio . Markus T. . Välipakka . Salla . Rinaldi . Bruno . Lapatto . Helena . Paetau . Anders . Ojanen . Simo . Brilhante . Virginia . Jokela . Manu . Huovinen . Sanna . Auranen . Mari . Palmio . Johanna . Friant . Sylvie . Ylikallio . Emil . Udd . Bjarne . Tyynismaa . Henna . 2019 . Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy . Journal of Neurology . 266 . 2 . 353–360 . 10.1007/s00415-018-9137-8 . 0340-5354 . 6373352 . 30515627.
  28. Saha . Madhurima . Reddy . Hemakumar M. . Salih . Mustafa A. . Estrella . Elicia . Jones . Michael D. . Mitsuhashi . Satomi . Cho . Kyung-Ah . Suzuki-Hatano . Silveli . Rizzo . Skylar A. . Hamad . Muddathir H. . Mukhtar . Maowia M. . Hamed . Ahlam A. . Elseed . Maha A. . Lek . Monkol . Valkanas . Elise . 2018-11-01 . Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan . Physiological Genomics . 50 . 11 . 929–939 . 10.1152/physiolgenomics.00036.2018 . 1094-8341 . 6293114 . 30345904.
  29. Web site: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE; MFM9 . 2023-12-27 . www.omim.org . en-us.
  30. Web site: #619040 - MYOFIBRILLAR MYOPATHY 10; MFM10 . 2023-07-03 . omim.org . en-us.
  31. Web site: MYOFIBRILLAR MYOPATHY 11; MFM11 . 2023-12-31 . www.omim.org . en-us.
  32. Web site: MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT . 2023-12-31 . www.omim.org . en-us.
  33. Web site: MYOPATHY, DISTAL, INFANTILE-ONSET . 2024-01-01 . www.omim.org . en-us.
  34. Chardon . Jodi Warman . Smith . A. C. . Woulfe . J. . Pena . E. . Rakhra . K. . Dennie . C. . Beaulieu . C. . Huang . Lijia . Schwartzentruber . J. . Hawkins . C. . Harms . M. B. . Dojeiji . S. . Zhang . M. . FORGE Canada Consortium . Majewski . J. . December 2015 . LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues . Clinical Genetics . 88 . 6 . 558–564 . 10.1111/cge.12561 . 1399-0004 . 25589244.
  35. Web site: MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE; MDRCMTT . 2024-01-01 . www.omim.org . en-us.
  36. Stunnenberg . Bas C. . LoRusso . Samantha . Arnold . W. David . Barohn . Richard J. . Cannon . Stephen C. . Fontaine . Bertrand . Griggs . Robert C. . Hanna . Michael G. . Matthews . Emma . Meola . Giovanni . Sansone . Valeria A. . Trivedi . Jaya R. . van Engelen . Baziel G.M. . Vicart . Savine . Statland . Jeffrey M. . October 2020 . Guidelines on clinical presentation and management of nondystrophic myotonias . Muscle & Nerve . 62 . 4 . 430–444 . 10.1002/mus.26887 . 0148-639X . 8117169 . 32270509.
  37. Trivedi . Jaya R. . Bundy . Brian . Statland . Jeffrey . Salajegheh . Mohammad . Rayan . Dipa Raja . Venance . Shannon L. . Wang . Yunxia . Fialho . Doreen . Matthews . Emma . Cleland . James . Gorham . Nina . Herbelin . Laura . Cannon . Stephen . Amato . Anthony . Griggs . Robert C. . July 2013 . Non-dystrophic myotonia: prospective study of objective and patient reported outcomes . Brain . 136 . 7 . 2189–2200 . 10.1093/brain/awt133 . 0006-8950 . 3692030 . 23771340.
  38. Kornblum . C. . Lutterbey . G. G. . Czermin . B. . Reimann . J. . von Kleist-Retzow . J.-C. . Jurkat-Rott . K. . Wattjes . M. P. . February 2010 . Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita . Acta Neurologica Scandinavica . en . 121 . 2 . 131–135 . 10.1111/j.1600-0404.2009.01228.x. free . 20047568 .
  39. Molenaar . Joery P. . Verhoeven . Jamie I. . Rodenburg . Richard J. . Kamsteeg . Erik J. . Erasmus . Corrie E. . Vicart . Savine . Behin . Anthony . Bassez . Guillaume . Magot . Armelle . Péréon . Yann . Brandom . Barbara W. . Guglielmi . Valeria . Vattemi . Gaetano . Chevessier . Frédéric . Mathieu . Jean . 2020-02-01 . Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients . Brain: A Journal of Neurology . 143 . 2 . 452–466 . 10.1093/brain/awz410 . 1460-2156 . 7009512 . 32040565.
  40. Web site: 600332 - RIPPLING MUSCLE DISEASE 1; RMD1 . 2023-07-03 . omim.org . en-us.
  41. Web site: #606072 - RIPPLING MUSCLE DISEASE 2; RMD2 . 2023-07-03 . omim.org . en-us.
  42. Wildermuth . Susanne . Spranger . Stephanie . Spranger . Matthias . Raue . Friedhelm . Meinck . Hans-Michael . July 1996 . Köbberling-Dunnigan syndrome: A rare cause of generalized muscular hypertrophy . Muscle & Nerve . en . 19 . 7 . 843–847 . 10.1002/(SICI)1097-4598(199607)19:7<843::AID-MUS5>3.0.CO;2-9 . 8965837 . 46022844 . 0148-639X . Wiley Online Library.
  43. Ji . Hongzhao . Weatherall . Paul . Adams-Huet . Beverley . Garg . Abhimanyu . August 2013 . Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety . The Journal of Clinical Endocrinology and Metabolism . 98 . 8 . E1410–1413 . 10.1210/jc.2013-1297 . 1945-7197 . 3733861 . 23783098.
  44. Hassan . Ijas . Bhanudeep . Singanamalla . Madaan . Priyanka . Chhajed . Monika . Saini . Lokesh . 2021 . Bilateral Calf Hypertrophy and Isolated Motor Delay: Think Beyond Muscular Dystrophy . Journal of Pediatric Neurosciences . 16 . 2 . 173–174 . 10.4103/jpn.JPN_171_20 . 1817-1745 . 8706592 . 35018192 . free .
  45. Web site: Stiff-Person Syndrome - Neurologic Disorders . 2023-07-03 . Merck Manuals Professional Edition . en-CA.
  46. Newsome . Scott D. . Johnson . Tory . 2022-08-15 . Stiff person syndrome spectrum disorders; more than meets the eye . Journal of Neuroimmunology . 369 . 577915 . 10.1016/j.jneuroim.2022.577915 . 1872-8421 . 9274902 . 35717735.
  47. Hynes . John P. . Glynn . David . Eustace . Stephen J. . 2022-03-22 . Denervation pseudo hypertrophy of the calf: An important cause of lower limb swelling . Radiology Case Reports . 17 . 5 . 1702–1704 . 10.1016/j.radcr.2022.02.066 . 1930-0433 . 8956883 . 35345565.
  48. Shields . Lisa B.E. . Iyer . Vasudeva . Bhupalam . Rukmaiah C. . Zhang . Yi Ping . Shields . Christopher B. . 2021-10-19 . Hypertrophy of the tensor fascia lata: A pseudotumor due to lumbar radiculopathy . Surgical Neurology International . 12 . 522 . 10.25259/SNI_857_2021 . 2229-5097 . 8571211 . 34754572.
  49. Rajvanshi . Satyam . Philip . Rajeev . Rai . Gopal K. . Gupta . K. K. . May 2012 . Kocher-Debre-Semelaigne syndrome . Thyroid Research and Practice . en-US . 9 . 2 . 53 . 10.4103/0973-0354.96047 . 0973-0354 . free .
  50. Sinclair . Christopher . Gilchrist . James M. . Hennessey . James V. . Kandula . Manju . September 2005 . Muscle carnitine in hypo- and hyperthyroidism . Muscle & Nerve . 32 . 3 . 357–359 . 10.1002/mus.20336 . 0148-639X . 15803480. 41839983 .
  51. Rodolico . Carmelo . Bonanno . Carmen . Pugliese . Alessia . Nicocia . Giulia . Benvenga . Salvatore . Toscano . Antonio . 2020-09-01 . Endocrine myopathies: clinical and histopathological features of the major forms . Acta Myologica . 39 . 3 . 130–135 . 10.36185/2532-1900-017 . 1128-2460 . 7711326 . 33305169.
  52. Qureshi . Waseem . Hassan . Ghulam . Khan . Ghulam Qadir . Kadri . Syed Manzoor . Kak . Manish . Ahmad . Manzoor . Tak . Shahid . Kundal . Darshan Lal . Hussain . Showkat . Rather . Abdul Rashid . Masoodi . Ibrahim . Sikander . Sabia . 2005-07-20 . Hoffmann's syndrome: a case report . GMS German Medical Science . 3 . Doc05 . 1612-3174 . 2703243 . 19675722.
  53. Wong . Kin Hoi . Chow . Maria Bernadette Che Ying . Lui . Tun Hing . Cheong . Yue Kew . Tam . Kwok Fai . 2017-07-25 . Denervation pseudohypertrophy of calf muscles associated with diabetic neuropathy . Radiology Case Reports . 12 . 4 . 815–820 . 10.1016/j.radcr.2017.06.011 . 1930-0433 . 5823303 . 29484078.
  54. Menon . M. Suraj . Roopch . P. Sreedharan . Kabeer . K. Abdulkhayar . Shaji . C. Velayudhan . July 2016 . Calf Muscle Hypertrophy in Late Onset Pompe's Disease . Archives of Medicine and Health Sciences . en-US . 4 . 2 . 251 . 10.4103/2321-4848.196188 . 58424073 . 2321-4848. free .
  55. Milisenda . José C. . Pujol . Teresa . Grau . Josep M. . 2016-10-11 . Not only bright tongue sign in Pompe disease . Neurology . en . 87 . 15 . 1629–1630 . 10.1212/WNL.0000000000003211 . 0028-3878 . 27765823. free .
  56. Karam . Chafic . 2016-01-26 . Bright tongue sign in Pompe disease . Neurology . en . 86 . 4 . 401 . 10.1212/WNL.0000000000002321 . 0028-3878 . 26810423. free .
  57. Web site: Sharma . Rohit . Bright tongue sign Radiology Reference Article Radiopaedia.org . 2023-11-20 . Radiopaedia . en-US . The bright tongue sign describes hyperintensity of the tongue on T1 weighted MRI, often best appreciated in sagittal views. It represents chronic denervation and resultant fatty replacement..
  58. Marbini . A. . Gemignani . F. . Saccardi . F. . Rimoldi . M. . October 1989 . Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers . Journal of Neurology . 236 . 7 . 418–420 . 10.1007/BF00314902 . 0340-5354 . 2809644. 21158814 .
  59. Hokezu . Y. . Nagamatsu . K. . Nakagawa . M. . Osame . M. . Ohnishi . A. . June 1983 . [Glycogenosis type III with peripheral nerve disorder and muscular hypertrophy in an adult] ]. Rinsho Shinkeigaku = Clinical Neurology . 23 . 6 . 473–479 . 0009-918X . 6317246.
  60. Kishnani . Priya S. . Austin . Stephanie L. . Arn . Pamela . Bali . Deeksha S. . Boney . Anne . Case . Laura E. . Chung . Wendy K. . Desai . Dev M. . El-Gharbawy . Areeg . Haller . Ronald . Smit . G. Peter A. . Smith . Alastair D. . Hobson-Webb . Lisa D. . Wechsler . Stephanie Burns . Weinstein . David A. . July 2010 . Glycogen Storage Disease Type III diagnosis and management guidelines . Genetics in Medicine . en . 12 . 7 . 446–463 . 10.1097/GIM.0b013e3181e655b6 . 20631546 . 4609175 . 1530-0366. free .
  61. Rodríguez-Gómez . I. . Santalla . A. . Díez-Bermejo . J. . Munguía-Izquierdo . D. . Alegre . L. M. . Nogales-Gadea . G. . Arenas . J. . Martín . M. A. . Lucía . A. . Ara . I. . November 2018 . Non-osteogenic muscle hypertrophy in children with McArdle disease . Journal of Inherited Metabolic Disease . 41 . 6 . 1037–1042 . 10.1007/s10545-018-0170-7 . 1573-2665 . 29594644. 4394513 . 10578/19657 . free .
  62. Pietrusz . Aleksandra . Scalco . Renata S. . Quinlivan . Ros . 2018 . Resistance Exercise Training in McArdle Disease: Myth or Reality? . Case Reports in Neurological Medicine . 2018 . 9658251 . 10.1155/2018/9658251 . 2090-6668 . 6186374 . 30363996 . Patient 1 had hypertrophy of calf, deltoid and bicep muscles before resistance training commenced, while living a sedentary lifestyle with an office job, walking short distances was difficult as was everyday tasks like vacuuming and cutting the grass. After four years of resistance training, pre-existing hypertrophy in deltoid muscles increased further and muscle bulk was gained in additional muscle groups (quadriceps, gluteus, pectoralis, and trapezius muscles). . free.
  63. Quinlivan . R. . Buckley . J. . James . M. . Twist . A. . Ball . S. . Duno . M. . Vissing . J. . Bruno . C. . Cassandrini . D. . Roberts . M. . Winer . J. . Rose . M. . Sewry . C. . 2010-11-01 . McArdle disease: a clinical review . Journal of Neurology, Neurosurgery & Psychiatry . en . 81 . 11 . 1182–1188 . 10.1136/jnnp.2009.195040 . 0022-3050 . 20861058.
  64. Quinlivan . R. . James . M. . Buckley . J. . Short . D. . Bruno . C. . Cassandrini . D. . Winer . J. . Roberts . M. . Rose . M. . Sewry . C. . October 2007 . M.P.4.01 Clinical aspects of McArdle disease in the UK . Neuromuscular Disorders . 17 . 9–10 . 859 . 10.1016/j.nmd.2007.06.327 . 0960-8966.
  65. Chéraud . Chrystel . Froissart . Roseline . Lannes . Béatrice . Echaniz-Laguna . Andoni . January 2018 . Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia . Muscle & Nerve . 57 . 1 . 157–160 . 10.1002/mus.25588 . 1097-4598 . 28120463.
  66. Semplicini . Claudio . Hézode-Arzel . Marianne . Laforêt . Pascal . Béhin . Anthony . Leonard-Louis . Sarah . Hogrel . Jean-Yves . Petit . François . Eymard . Bruno . Stojkovic . Tanya . Fournier . Emmanuel . 2018-01-19 . The role of electrodiagnosis with long exercise test in mcardle disease . Muscle & Nerve . 58 . 64–71 . 10.1002/mus.26074 . 1097-4598 . 29350794.
  67. Rose . M. R. . Howard . R. S. . Genet . S. A. . McMahon . C. J. . Whitfield . A. . Morgan-Hughes . J. A. . January 1993 . A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage . Muscle & Nerve . 16 . 1 . 57–62 . 10.1002/mus.880160110 . 0148-639X . 8423832.
  68. Larsson . L. -E. . Linderholm . H. . Müller . R. . Ringqvist . T. . Sörnäs . R. . October 1964 . Hereditary metabolic myopathy with paroxysmal myoglobinuria due to abnormal glycolysis1 . Journal of Neurology, Neurosurgery, and Psychiatry . 27 . 5 . 361–380 . 10.1136/jnnp.27.5.361 . 0022-3050 . 14213465. 495765 .
  69. Crooks . Daniel R. . Natarajan . Thanemozhi G. . Jeong . Suh Young . Chen . Chuming . Park . Sun Young . Huang . Hongzhan . Ghosh . Manik C. . Tong . Wing-Hang . Haller . Ronald G. . Wu . Cathy . Rouault . Tracey A. . 2014-01-01 . Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron–sulfur cluster depletion in human skeletal muscle . Human Molecular Genetics . 23 . 1 . 24–39 . 10.1093/hmg/ddt393 . 0964-6906 . 3857942 . 23943793.
  70. Rasheed . Khalid . Sethi . Pooja . Bixby . Eric . May 2013 . Severe vitamin d deficiency induced myopathy associated with rhabydomyolysis . North American Journal of Medical Sciences . 5 . 5 . 334–336 . 10.4103/1947-2714.112491 . 2250-1541 . 3690793 . 23814767 . free .
  71. Polly . Patsie . Tan . Timothy C. . 2014-04-16 . The role of vitamin D in skeletal and cardiac muscle function . Frontiers in Physiology . 5 . 145 . 10.3389/fphys.2014.00145 . 1664-042X . 3995052 . 24782788 . free .
  72. Yoshikawa . S. . Nakamura . T. . Tanabe . H. . Imamura . T. . June 1979 . Osteomalacic myopathy . Endocrinologia Japonica . 26 . Suppl . 65–72 . 10.1507/endocrj1954.26.supplement_65 . 0013-7219 . 467350. free .
  73. Web site: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; CMYP5 . 2023-12-31 . www.omim.org . en-us.
  74. Web site: #618823 - CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS; CMYP9B . 2023-07-03 . omim.org . en-us.
  75. Polavarapu . Kiran . Bardhan . Mainak . Anjanappa . Ram Murthy . Vengalil . Seena . Preethish-Kumar . Veeramani . Shingavi . Leena . Chawla . Tanushree . Nashi . Saraswati . Mohan . Dhaarini . Arunachal . Gautham . Geetha . Thenral S. . Ramprasad . Vedam . Nalini . Atchayaram . July 2021 . Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review . Journal of Clinical Neurology (Seoul, Korea) . 17 . 3 . 409–418 . 10.3988/jcn.2021.17.3.409 . 1738-6586 . 8242322 . 34184449.
  76. Web site: CONGENITAL MYOPATHY 24; CMYP4 . 2024-01-01 . www.omim.org . en-us.
  77. Morin . Gilles . Biancalana . Valérie . Echaniz-Laguna . Andoni . Noury . Jean-Baptiste . Lornage . Xavière . Moggio . Maurizio . Ripolone . Michela . Violano . Raffaella . Marcorelles . Pascale . Maréchal . Denis . Renaud . Florence . Maurage . Claude-Alain . Tard . Céline . Cuisset . Jean-Marie . Laporte . Jocelyn . January 2020 . Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation . Human Mutation . en . 41 . 1 . 17–37 . 10.1002/humu.23899 . 31448844 . 201753610 . 1059-7794. free .
  78. Cameron . C. H. Stuart . Allen . Ingrid V. . Patterson . Victor . Avaria . Maria A. . December 1992 . Dominantly inherited tubular aggregate myopathy . The Journal of Pathology . en . 168 . 4 . 397–403 . 10.1002/path.1711680410 . 1484321 . 3241237 . 0022-3417.
  79. Lupi . Amalia . Spolaor . Simone . Favero . Alessandro . Bello . Luca . Stramare . Roberto . Pegoraro . Elena . Nobile . Marco Salvatore . 2023-05-08 . Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning . PLOS ONE . en . 18 . 5 . e0285422 . 10.1371/journal.pone.0285422 . 1932-6203 . 10166478 . 37155641 . 2023PLoSO..1885422L . free .
  80. Tajsharghi . Homa . Oldfors . Anders . January 2013 . Myosinopathies: pathology and mechanisms . Acta Neuropathologica . 125 . 1 . 3–18 . 10.1007/s00401-012-1024-2 . 1432-0533 . 3535372 . 22918376.
  81. Web site: MYOPATHY, DISTAL, 1; MPD1 . 2023-09-23 . www.omim.org . en-us.
  82. Web site: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYP7A . 2023-09-23 . www.omim.org . en-us.
  83. Mohile . Neil . Perez . Jose . Rizzo . Michael . Emerson . Christopher P. . Foremny . Greg . Allegra . Paul . Greditzer . Harry G. . Jose . Jean . February 2020 . Chronic Lower Leg Pain in Athletes: Overview of Presentation and Management . HSS Journal: The Musculoskeletal Journal of Hospital for Special Surgery . 16 . 1 . 86–100 . 10.1007/s11420-019-09669-z . 1556-3316 . 6973789 . 32015745.
  84. Web site: #255800 - SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 . 2023-07-03 . omim.org . en-us.
  85. Web site: #300280 - URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU . 2023-07-03 . www.omim.org . en-us.
  86. Web site: #600092 - NIVELON-NIVELON-MABILLE SYNDROME; NNMS . 2023-07-03 . omim.org . en-us.
  87. Web site: SATOYOSHI SYNDROME . 2023-09-01 . www.omim.org . en-us.
  88. Web site: 154850 - MASTICATORY MUSCLES, HYPERTROPHY OF . 2023-07-03 . www.omim.org . en-us.
  89. Web site: 606773 - HEMIFACIAL MYOHYPERPLASIA; HMH . 2023-07-03 . www.omim.org . en-us.
  90. Kathait . Aparna . Dhar . Siddharth . Garg . Divyani . Chatterjee . Atri . Chandan . Shishir K. . 2022 . Syringomyelia: An Unusual Cause of Pronounced Calf Hypertrophy . Annals of Indian Academy of Neurology . 25 . 6 . 1182–1183 . 10.4103/aian.aian_486_22 . 0972-2327 . 9996497 . 36911462 . free .
  91. Web site: EPISODIC ATAXIA, TYPE 1; EA1 . 2023-12-27 . www.omim.org . en-us.
  92. Web site: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23 . 2023-12-31 . www.omim.org . en-us.
  93. Web site: Conte . Talita C. . et al. . A Missense Mutation in DCST2 Causes the Strongman Syndrome . The Canadian Institutes of Health Research - Institute of Genetics (CIHR-IG).
  94. Brais . B. . Conte . T. . Dicaire . M. . Tetreault . M. . O'Ferrall . E. . Ravenscroft . G. . Laing . N. . Lamont . P. . Taivasssalo . T. . Hepple . R. . Mathieu . J. . October 2016 . A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome . Neuromuscular Disorders . 26 . S95 . 10.1016/j.nmd.2016.06.038 . 54367645 . 0960-8966.
  95. Web site: HYPERTROPHIA MUSCULORUM VERA . 2023-09-23 . omim.org . en-us.
  96. Poch . G. F. . Sica . E. P. . Taratuto . A. . Weinstein . I. H. . January 1971 . Hypertrophia musculorum vera. Study of a family . Journal of the Neurological Sciences . 12 . 1 . 53–61 . 10.1016/0022-510x(71)90251-6 . 0022-510X . 5100002.
  97. Uzunoğlu . Ceren . Toptaş . Tayfur . İpek . Yıldız . Arıkan . Fatma . Yılmaz . Fergün . Tuğlular . Tülin . September 2021 . Shoulder-Pad Sign in a Case of Amyloidosis Associated with Myeloma . Turkish Journal of Hematology . 38 . 3 . 233–234 . 10.4274/tjh.galenos.2021.2021.0630 . 1300-7777 . 8386310 . 34014054.
  98. Web site: Baker cyst - Symptoms and causes . 2024-01-06 . Mayo Clinic . en.

Further reading

Neuromuscular disease centre, Washington University - Large or prominent muscles

National Center for Biotechnology Information (NCBI) - Skeletal muscle hypertrophy, generalized muscle hypertrophy, calf muscle hypertrophy, thigh hypertrophy

The Human Phenotype Ontology (HPO) project - Skeletal muscle hypertrophy, calf muscle hypertrophy, muscle hypertrophy of the lower extremities, upper limb muscle hypertrophy