Pseudoathletic appearance

Last updated
Pseudoathletic appearance
Other namesHerculean appearance, Bodybuilder-like appearance
Pseudoathletic appearance of calf muscle hypertrophy.png

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] [2] It is also referred to as a Herculean or bodybuilder-like appearance. [3] 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.

Contents

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. [4]

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. [5] [6]

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). [5] [6] 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). [7] [8]

Diseases

Skeletal muscle

This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by adding missing items with reliable sources.
Disease groupingDiseaseMuscle(s) typically affectedAge of onsetBiopsy, ultrasonography, CT scan or MRI
Hyperplasia Myostatin-related muscle hypertrophy

(MSTN gene)

GeneralPrenatal-onsetMyofibre hyperplasia and decreased adipose tissue.
Beckwith–Wiedemann syndrome Macroglossia

/hemihypertrophy of limb or body

Prenatal to infantile-onsetWide phenotypic variability. Macroglossia (enlarged tongue) and hemihyperplasia (enlargement on one side of the body) in general or an isolated limb. [9] [10]
Aberrant muscle syndrome

(congenital muscular hyperplasia of the hand and/or foot)

(PIK3CA-related overgrowth spectrum)

Hand and/or foot [11] [12] Childhood-onsetMuscle hyperplasia and ectopic (out of place) striated muscle fibres in dermis and hypodermis. [11] [12]
ParasiticDisseminated muscular cysticercosis syndrome [13] General

/calf muscle [5]

VariablePork tapeworm cysts [13]
Trichinosis [10] GeneralVariableSkeletal muscle inflammation (myositis) secondary to roundworm cysts and larvae.
Inflammation Inflammatory myopathies

(Focal myositis, polymyositis, granulomatous myositis, inclusion body myositis)

Calf muscle [14] [15] /general
Sarcoid granulomas/Sarcoidosis Calf muscle [14] /generalInflammatory cells and deposits of sarcoid granulomas
Amyloid deposits/Amyloidosis

(Inflammatory protein serum amyloid A, or in association with inflammatory diseases)

Calf muscle [14] /general [16] Amyloid deposits [16]
Ossification Fibrodysplasia ossificans progressiva

(formerly known as myositis ossificans progressiva)

GeneralEpisodic inflammatory flare-ups involving skeletal muscle (myositis) secondary to muscle tissue turning into bone (ossification) [10] [17]
Non-hereditary myositis ossificans GeneralEpisodic inflammatory flare-ups involving skeletal muscle (myositis) secondary to muscle tissue turning into bone (ossification)
Muscular dystrophy Duchenne muscular dystrophy Calf muscle

/general [4]

Childhood-onsetMuscle hypertrophy may precede pseudohypertrophy by infiltration of fatty tissue [4]
Becker muscular dystrophy Calf muscle

/general [4] [18]

VariableMuscle hypertrophy may precede pseudohypertrophy by infiltration of fatty tissue [4]
Facioscapulohumeral muscular dystrophy Calf muscle [15] /infraspinatus [19]

/deltoid muscles [5]

"Poly-hill sign" (hypertrophy and atrophy of shoulder girdle muscles) and "Popeye sign" (atrophy of biceps, but spared forearm). [19]
Myotonic dystrophy types 1 & 2Calf muscle [5] [20] VariableVariable. Calf muscle hypertrophy rare in type 1, EMG showing persistent myotonic discharges in affected muscles. [20] Calf muscle hypertrophy common in type 2 (about 50%), EMG may be normal or show myotonic discharges. [5]
Limb-girdle muscular dystrophy (LGMD)

types R1 (formerly, 2A), R3 (2D), R4 (2E), R5 (2C), R6 (2F), R7 (2G), R8 (2H), R9 (2I), R10 (2J), R11 (2K), R12 (2L), R13 (2M), R14 (2N), R15 (2O), R16 (2P), R19 (2T), R20 (2U), R23, R24, R26, R28

Calf muscle [18] [21] [22] [23] /macroglossia [21] /general [21] VariableHypertrophy and/or pseudohypertrophy by fatty infiltration of muscle. Classic dystrophic changes include myonecrosis and regeneration, variations in muscle fibre size, myofibrosis, fatty infiltration. [21]


LGMD1H shows histochemical evidence suggestive of a mitochondrial myopathy and since 2017 was excluded from LGMD (see below under metabolic myopathy). [24] [25]

Muscular dystrophy-dystroglycanopathy (MDDG)

(types A2, A4, B1, B2, B5, B6, C2, C3, C4, C5, C7, C8, C9, C12, C14)

Calf muscle [5] Hypertrophy and/or pseudohypertrophy by fatty infiltration of muscle. [26] [27] [28]
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. [29]
Emery–Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)

(formerly, LGMD1B)

Calf muscle [30] Childhood-onsetCalf muscle hypertrophy. Biopsy shows neurogenic and myopathic changes, including fibre type variation, central nuclei, fibrosis and fatty infiltration. EMG myopathic. [30]
Miyoshi muscular dystrophy 3Calf muscles

/extensor digitorum brevis muscles

Adult-onsetMuscle hypertrophy and/or pseudohypertrophy by infiltration of fatty tissue. Muscle hypertrophy precedes muscle atrophy. [31]
Myopathy, vacuolar, with CASQ1 aggregatesCalf muscleAdolescence to adult-onsetCalf muscle hypertrophy in some. [32] 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. [33]
Myofibrillar myopathy 3 (MFM3)

(MYOT gene, Ser55Phe missense mutation phenotype)

(formerly, LGMD1A)

Neck, trunk, thigh and leg muscles [34] Adult-onsetPseudohypertrophy by infiltration of fatty tissue. Muscle biopsy showed myofibrillar myopathy with prominent protein aggregates, type I (slow-twitch/oxidative) fibre predominance, other abnormalities. EMG myopathic with spontaneous activity at rest, with or without complex repetitive discharges. Muscles felt stiff upon palpitation [34]
Myofibrillar myopathy 8 (MFM8)

(PYROXD1 gene)

Rectus femoris [35] /calf muscle [36] 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. [35] Pseudohypertrophy of calf muscles. [36] EMG myopathic. Muscle biopsy commonly showed dystrophic changes, myofibrillar inclusions, nemaline rods, internalized nuclei, other myopathic features. [35]
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. [37]
Myofibrillar myopathy 10 (MFM10)Trapezius and latissimus dorsi musclesChildhood 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. [38]
Myofibrillar myopathy 11 (MFM11)Calf muscle [39] 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. [39]
Myopathy, distal, Tateyama type (MPDT)Calf muscle [40] 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. [40]
Myopathy, distal, infantile-onsetCalf muscle [41] 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. [41]
Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT)

(formerly, LGMD2W)

Calf muscle and macroglossia [42] 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. [42] [43]
Non-dystrophic myotonias and pseudomyotonias

(delayed muscle relaxation)

 Myotonia congenita

(Chloride channelopathy, CLCN1 gene)

Calf muscle

/general [44] [45]

Calf muscle hypertrophy. [46]
Potassium-aggravated myotonia, paramyotonia congenita

(Sodium channelopathy, SCN4A gene)

Calf muscle

/general [44] [45]

Muscle hypertrophy. [5]
Brody disease

(formerly, Brody myopathy)

Calf muscle [44] [47] Variable [47] 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. [47]
Rippling muscle disease (RMD) types 1 & 2

(RMD2 formerly, LGMD1C)

Calf muscle [21]

/general [48] [49]

Muscle hypertrophy. Muscle activity is electrically silent on EMG. [48] [49]
Lipodystrophy Familial partial lipodystrophy

(Köbberling–Dunnigan syndrome)

Calf muscle

/general [50] [7]

Adolescence-onsetHypertrophy of calf muscles [50] [7]
Congenital generalized lipodystrophy

(Berardinelli–Seip syndrome)

General [8] Infantile-onsetMuscle hypertrophy [8]
Hypertonia

(spasticity or rigidity)

 Spastic cerebral palsy Calf muscle [51] Childhood-onsetaccumulation of hydroxyproline (aminoacid exclusive to collagen) in calf muscles [51]
Stiff-person syndrome Torso/limbsAdult-onsetMuscle hypertrophy and EMG demonstrates co-contraction of agonist and antagonist muscles and/or continuous motor unit activity in affected muscles. [52] [53]
Denervation (pseudo)hypertrophy Peripheral nerve traumatic injury Calf muscle [54] Variable
Disorders of the anterior horn cells (such as poliomyelitis, spinal muscular atrophy, and Charcot–Marie–Tooth disease)Calf muscle [54] Variable
Radiculopathy

(pinched nerve)

Calf muscle [54] /thigh muscle [55] Adult-onsetVariable. Hypertrophy or pseudohypertrophy by fatty infiltration of muscle. [54] [55]
Endocrine myopathies Kocher–Debre–Semelaigne syndrome Calf muscle [14] /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), [56] decrease in muscle carnitine. [57]
Hoffmann syndrome Calf muscle [14] /generalAdult-onsetVariable (with or without mucoid deposits). [14] [58] [59] 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. [14] [58] [59] Decrease in muscle carnitine. [57]
Denervation pseudohypertrophy of calf muscles secondary to diabetic neuropathy Calf muscle [60] Adult-onsetFatty infiltration of calf muscles (pseudohypertrophy) and myofibrosis. [60]
Acromegaly/Gigantism General [10] Muscle hypertrophy
Metabolic myopathies Late-onset Pompe disease (Glycogen storage disease type II)

(formerly, LGMD2V)

Calf muscle [61] /macroglossia [62] [63] Variable (childhood to adulthood, but not infantile-onset)Calf muscle hypertrophy, abnormal glycogen accumulation within the lysosomes of muscle cells due to impaired glycogenolysis. [61] 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." [62] [63] [64]
Cori/Forbes disease (Glycogen storage disease type III)Sternocleidomastoid, trapezius and quadriceps muscles [65] /thigh muscles [5] VariableHypertrophy [66] and pseudohypertrophy. [65] [67] Abnormal glycogen accumulation within the cytosol of muscle cells due to impaired glycogenolysis. [67]
McArdle disease (Glycogen storage disease type V)Calf muscle [68] [69] /quadriceps [70] /deltoid and bicep muscles [69] Childhood-onsetMuscle hypertrophy, lean calf muscles, abnormal glycogen accumulation within the cytosol of muscle cells due to impaired glycogenolysis. [68] [69] [71] EMG normal or myopathic low amplitude, short duration polyphasic MUAPs (motor unit action potentials). [72] [73] EMG results may be dynamic: more likely to be myopathic after 5 minutes of high-intensity isometric exercise. [73]
Muscle glycogen storage disease of unknown etiology in conjunction with dystrophin gene deletion [74] Calf muscle [74] Adult-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. [74]
Hereditary myopathy with lactic acidosis (HML)

(gene ISCU)

Calf muscle [75] [76] Childhood-onsetSome have hypertrophy of calf muscles. [75] [76] Upon palpitation, some feel abnormally hard with or without tenderness. [75] Radiological examination showed no infiltration of fatty tissue. [75] 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. [75] [76] EMG is normal or myopathic increased polyphasic MUAPs. EMG results may be dynamic: more likely to have increased polyphasic MUAPs after exercise. [75]
Muscular dystrophy, limb-girdle, type 1H

(As of 2017 was excluded from LGMD, but not yet assigned new nomenclature) [25]

Calf muscle [24] Variable

(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. [24]
Malnutrition

(poor diet, malabsorption diseases, or drug side effect such as lipase inhibitor Orlistat) [77]

Vitamin D deficiency myopathy

(also known as osteomalacic myopathy)

Calf muscle [51] Adult-onset (no rickets)Muscle hypertrophy in rare cases. [51] [15] Commonly abnormal glycogen accumulation (impaired glycogenolysis), atrophy of type II (fast-twitch/glycolytic) muscle fibres, enlarged inter-fibrillar spaces; [78] [79] rarely infiltration of fat (pseudohypertrophy), and fibrosis. [78] EMG myopathic low amplitude, short duration polyphasic MUAPs (motor unit action potentials). [79]
Vitamin D deficiency myopathy secondary to Celiac disease Calf muscle [51] Adult-onset

(no rickets)

Congenital myopathies Central core disease

Congenital myopathy 1 A & B, Malignant hyperthermia susceptibility

(RYR1 gene)

Calf muscle [15] [80] Muscle hypertrophy [15] [80]
Centronuclear myopathy

Types 1, 2, & 6

Calf muscle [15] [81] [82] [83] [84] /paraspinal muscles [82] / general [85] Variable.

Childhood- to adult-onset

Muscle hypertrophy. Muscle biopsy shows numerous centrally located nuclei, and may have other variable myopathic features. [81]
Congenital myopathy 5 with cardiomyopathy (CMYP5)Calf muscle [86] 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. [86]
Congenital myopathy 9B, proximal, with minicore lesionsCalf muscle [87] Infantile-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. [87]
Congenital myopathy 24 (CMYP24)

(formerly, nemaline myopathy 11, autosomal recessive)

Calf muscle [88] 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. [88] [89]
Tubular aggregate myopathy types 1 & 2

(genes STIM1, ORAI1)

Calf muscle [90] 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. [91] [90] Muscle oedema and fibrosis may accompany fatty infiltration. [92]
Myosin myopathies and Laing distal myopathy

(gene MYH7)

 Laing distal myopathy

(Myopathy, distal, 1; MPD1)

Calf muscle [93] [94] 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. [93] [94]
Myosin storage myopathy

(Congenital myopathy 7A, myosin storage; CMYP7A)

Calf muscle [93] [95] 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. [93] [95]
TumoursInfiltrating lipoma Calf muscle [60] Pseudohypertrophy [60]
Sarcoma Pseudohypertrophy [5]
VascularIntramuscular hematoma due to inherited or acquired coagulopathy Muscle swollen due to intramuscular bleeding and impaired blood clotting. [5]
Diabetic muscle infarction Quadriceps [5] Adult-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. [5]
Compartment syndrome (Acute or chronic exertional)Calf muscles

/general

Adult-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. [96]
Short stature Myhre syndrome

(chronic denervation hypertrophy secondary to primary disease)

General [10] Childhood-onsetMuscle hypertrophy
Schwartz-Jampel syndrome Infantile-onsetMuscle hypertrophy [97]
Uruguay faciocardiomusculoskeletal syndromeEarly childhood-onsetMuscle hypertrophy [98]
Nivelon-Nivelon-Mabille syndromePrenatal-onsetMuscle hypertrophy in some [99]
Satoyoshi syndrome GeneralChildhood to early adolescence-onsetMuscle hypertrophy [100]
Stormorken syndrome

(gene STIM1)

Calf muscle [90] Childhood-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, [90]
Exclusively facial musclesHemifacial 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) [101] [10]
Idiopathic unilateral masseter muscle hypertrophyMasticatory musclesAdolescence-onsetUnilateral (one side of the face) hypertrophy of masticatory muscles (used for chewing food). Biopsy showed hypertrophic muscle fibres. [102]
Masseter muscle hypertrophyMasticatory musclesAdolescence-onsetBilateral (both sides of the face) muscle hypertrophy of the masticatory muscles (used for chewing food) [103]
Bruxism

(excessive teeth grinding or clenching)

Masticatory musclesHypertrophy of masticatory muscles (used for chewing food) [102]
Other Syringomyelia

(cyst or cavity within spinal cord)

Upper limbs

/calf muscle [104]

Muscle hypertrophy [104]
Peripheral nerve hyperexcitability syndromes

(Neuromyotonia, Morvan syndrome, Benign fasciculation syndrome, Cramp fasciculation syndrome)

Upper limbs

/calf muscle [104]

Muscle hypertrophy [104]
Episodic ataxia, type 1 (EA1)

(Episodic ataxia with myokymia; EAM)

(Potassium channelopathy, gene KCNA1)

Calf muscle [105] Childhood-onsetCalf muscle hypertrophy. EMG shows polyphasic continuous motor unit discharges. Muscle biopsy shows enlargement of type I muscle fibres, consistent with denervation. [105]
Myasthenic syndrome, congenital, 23, presynaptic (CMS23)Calf muscle [106] Infantile-onsetCalf muscle hypertrophy. EMG shows abnormal jitter. Biopsy normal or non-specific myopathic features. [106]
Familial myoedema, muscular hypertrophy and stiffnessCalf muscle [107] Childhood-onsetCalf muscle hypertrophy [107] Muscle biopsy showed unspecified myopathic changes, many vacuoles between myofibrils. EMG showed no myopathic discharges. Myoedema response in whole body. [107] [108]
Strongman syndrome

(Muscle hypertrophy syndrome, myalgic [10] )

GeneralChildhood-onsetMuscle hypertrophy [109] [110]
Hypertrophia musculorum vera

(Latin for true muscle hypertrophy)

Calf muscle

/masseter muscle [111] [112]

Variable. Typically adult-onset

(early 20s)

Calf muscle hypertrophy, there may also be hypertrophy of masseter muscles (used for chewing food). Biopsy of affected muscles shows hypertrophy of muscle fibres with occasional central migration of sarcolemmal nuclei. EMG of affected muscles is myopathic. [111] [112]
TANGO2-related disease

(Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; MECRCN)

Hemihypertrophy of arm and leg [113] [114] Infantile-onsetWide phenotypic variability. Hemihypertrophy of right arm and leg (rare). [113] [114] Abnormal autophagy and mitophagy, may have normal or abnormal secondary fatty acid metabolism and/or respiratory chain dysfunction in muscle biopsy. [115]
Atypical Werner syndrome Limbs [116] Variable.

Adolescence- or early adult-onset

Muscle hypertrophy of the limbs [116]
Dilated cardiomyopathy 1X (CMD1X)Calf muscle [117] [118] Bilateral calf muscle hypertrophy [117] [118]
Chromosome Xp21 deletion syndromeCalf muscle [119] Childhood-onsetBilateral calf muscle hypertrophy [119]
Neuromuscular oculoauditory syndrome (NMOAS)Calf muscle [120]
Myopathy with extrapyramidal signs (MPXPS)Calf muscle [121] [122]
Habitual toe walking secondary to autism spectrum disorderCalf muscle [51] Childhood-onsetMuscle hypertrophy

Skin and other non-muscle tissue

This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by adding missing items with reliable sources.
Disease groupingDiseaseBody part(s) typically affectedAge of onsetBiopsy, ultrasonography, CT scan or MRI
Lipomatosis Madelung disease Upper trunkAdult-onsetSymmetrical subcutaneous adipose tissue (unencapsulated lipomas)
Parasitic Disseminated cysticercosis Skin/GeneralVariablePork tapeworm cysts
Inflammation of the joint Amyloidosis shoulders "shoulder pad sign" [123] Adult-onsetAmyloid deposits, significant thickening of the subdeltoid bursa [123]
Synovial fluid leakBurst Baker's cyst Calf [5] [124] Adult-onsetSwelling of the calf due to synovial fluid leaking into it from a burst Baker's cyst.
Phlebetic lymphedema Venous thrombosis/

Post-thrombotic syndrome

Lower extremities [5] Adult-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 insufficiency Lower 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

Related Research Articles

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<span class="mw-page-title-main">Emery–Dreifuss muscular dystrophy</span> Medical condition

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Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.

<span class="mw-page-title-main">Muscle contracture</span> Permanent shortening of a muscle

Muscle contractures can occur for many reasons, such as paralysis, muscular atrophy, and forms of muscular dystrophy. Fundamentally, the muscle and its tendons shorten, resulting in reduced flexibility.

<span class="mw-page-title-main">Metabolic myopathy</span> Muscular diseases caused by defects in metabolic processes

Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects that interfere with the ability to create energy, causing a low ATP reservoir within the muscle cell.

<span class="mw-page-title-main">Ullrich congenital muscular dystrophy</span> Medical condition

Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.

Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease.

<span class="mw-page-title-main">Muscle–eye–brain disease</span> Medical condition

Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities. The condition is degenerative.

<span class="mw-page-title-main">Pseudohypertrophy</span> False enlargement of muscle due to infiltration of fat or other tissue

Pseudohypertrophy, or false enlargement, is an increase in the size of an organ due to infiltration of a tissue not normally found in that organ. It is commonly applied to enlargement of a muscle due to infiltration of fat or connective tissue, famously in Duchenne muscular dystrophy. This is in contrast with typical muscle hypertrophy, in which the muscle tissue itself increases in size. Because pseudohypertrophy is not a result of increased muscle tissue, the muscles look bigger but are actually atrophied and thus weaker. Pseudohypertrophy is typically the result of a disease, which can be a disease of muscle or a disease of the nerve supplying the muscle.

Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life. This condition is typically present from birth or early childhood and tends to worsen over time.

<span class="mw-page-title-main">LAMA2 related congenital muscular dystrophy</span> Medical condition neuromuscular disorders

LAMA2 muscular dystrophy (LAMA2-MD) is a genetically determined muscle disease caused by pathogenic mutations in the LAMA2 gene. It is a subtype of a larger group of genetic muscle diseases known collectively as congenital muscular dystrophies. The clinical presentation of LAMA2-MD varies according to the age at presentation. The severe forms present at birth and are known as early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A. The mild forms are known as late onset LAMA2 muscular dystrophy or late onset LAMA2-MD. The nomenclature LGMDR23 can be used interchangeably with late onset LAMA2-MD.

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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

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