Pseudoathletic appearance

Pseudoathletic appearance
Other namesHerculean appearance, Bodybuilder-like appearance

Pseudoathletic appearance is a medical sign meaning to have the false appearance of a well-trained athlete due to pathology instead of true athleticism.[1][2] It is also referred to as a Herculean or bodybuilder-like appearance.[3] The pathology may be the result of muscle inflammation (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.[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 some forms of lipodystrophy, an abnormal deficit of subcutaneous fat accentuates the appearance of the muscles, though the muscles are quantifiably hypertrophic (possibly due to a metabolic abnormality).[7][8]

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)

 General Prenatal-onset Myofibre hyperplasia and decreased adipose tissue.
Beckwith–Wiedemann syndrome Macroglossia/ hemihypertrophy of limb or body Prenatal to infantile-onset Wide phenotypic variability. Macroglossia (enlarged tongue) and hemihyperplasia (enlargement on one side of the body) in general or an isolated limb.[9][10]
Parasitic Disseminated muscular cysticercosis syndrome[11] General Variable Pork tapeworm cysts[11]
Trichinosis[10] General Variable Skeletal muscle inflammation (myositis) secondary to roundworm cysts and larvae.
Inflammation Inflammatory myopathies

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

 Calf muscle[12][13]/general
Sarcoid granulomas/Sarcoidosis Calf muscle[12]/general Inflammatory cells and deposits of sarcoid granulomas
Amyloid deposits/Amyloidosis

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

 Calf muscle[12]/general[14] Amyloid deposits[14]
Ossification Fibrodysplasia ossificans progressiva

(formerly known as myositis ossificans progressiva)

 General Episodic inflammatory flare-ups involving skeletal muscle (myositis) secondary to muscle tissue turning into bone (ossification)[10][15]
Non-heriditary myositis ossificans General Episodic 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-onset Muscle hypertrophy may precede pseudohypertrophy by infiltration of fatty tissue[4]
Becker muscular dystrophy Calf muscle/general[4][16] Variable Muscle hypertrophy may precede pseudohypertrophy by infiltration of fatty tissue[4]
Facioscapulohumeral muscular dystrophy Calf muscle[13]
Limb-girdle muscular dystrophy (LGMD) Calf muscle[16][17] Variable Classic dystrophic changes include myonecrosis and regeneration, variations in muscle fibre size, myofibrosis, fatty infiltration (pseudohypertrophy).[17] LGMD1H shows histochemical evidence of defective oxidative phosphorylation and ragged red fibres, suggestive of a mitochondrial myopathy and since 2017 was excluded from LGMD (see below under metabolic myopathy).[18][19]
Congenital muscular dystrophy-dystroglycanopathy types A, B, & C

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

Hypertrophy and/or pseudohypertrophy by fatty infiltration of muscle.[20][21][22]
Myopathy, X-linked, with postural muscle atrophy

(formerly Emery-Dreifuss muscular dystrophy 6, X-linked)

 Proximal muscles Variable (late childhood to adult-onset) Muscle hypertrophy precedes muscle atrophy. Biopsy shows myopathic or dystrophic changes, rimmed vacuoles, cytoplasmic bodies, and granulofilamentous material.[23]
Miyoshi muscular dystrophy 3 Calf muscles/extensor digitorum brevis muscles Adult-onset Muscle hypertrophy and/or pseudohypertrophy by infiltration of fatty tissue. Muscle hypertrophy precedes muscle atrophy.[24]
Myopathy, vacuolar, with CASQ1 aggregates Calf muscles Adolescence to adult-onset Calf 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 10 Trapezius and latissimus dorsi muscles Childhood to young adult-onset Hypertrophic 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.[27]
Non-dystrophic myotonias and pseudomyotonias

(delayed muscle relaxation)

 Myotonia congenita

(Chloride channelopathy, CLCN1 gene)

 Calf muscle/general[28][29]
Potassium-aggravated myotonia, paramyotonia congenita

(Sodium channelopathy, SCN4A gene)

 Calf muscle/general[28][29]
Brody disease Calf muscle[28][30] Variable[30] 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.[30]
Rippling muscle disease Muscle hypertrophy. Muscle activity is electrically silent on EMG.[31][32]
Lipodystrophy Familial partial lipodystrophy

(Köbberling–Dunnigan syndrome)

 Calf muscle/general[33][7] Adolescence-onset Hypertrophy of calf muscles[33][7]
Congenital generalized lipodystrophy

(Berardinelli-Seip syndrome)

 General[8] Infantile-onset Muscle hypertrophy[8]
Spasticity Spastic cerebral palsy Calf muscle[34] Childhood-onset accumulation of hydroxyproline (aminoacid exclusive to collagen) in calf muscles[34]
Stiff-person syndrome Torso/limbs Muscle hypertrophy and EMG demonstrates co-contraction of agonist and antagonist muscles and/or continuous motor unit activity in affected muscles.[35][36]
Denervation (pseudo)hypertrophy Peripheral nerve traumatic injury Calf muscle[37] Variable
Disorders of the anterior horn cells (such as poliomyelitis, spinal muscular atrophy, and Charcot-Marie-Tooth disease) Calf muscle[37]
Radiculopathy

(pinched nerve)

 Calf muscle[37]/thigh muscle[38] Adult-onset Variable. Fatty infiltration of calf muscle (pseudohypertrophy),[37] true hypertrophy of thigh muscle.[38]
Endocrine myopathies Kocher–Debre–Semelaigne syndrome Calf muscle[12]/general Childhood-onset Muscle 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),[39] decrease in muscle carnitine.[40]
Hoffmann syndrome Calf muscle[12]/general Adult-onset Variable (with or without mucoid deposits).[12][41][42] 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.[12][41][42] Decrease in muscle carnitine.[40]
Denervation pseudohypertrophy of calf muscles secondary to diabetic neuropathy Calf muscle[43] Adult-onset Fatty infiltration of calf muscles (pseudohypertrophy) and myofibrosis.[43]
Acromegaly/Gigantism General[10] Muscle hypertrophy
Metabolic myopathies Late-onset Pompe disease (Glycogen storage disease type II) Calf muscle[44] Variable (childhood to adulthood, but not infantile-onset) Muscle hypertrophy, abnormal glycogen accumulation within the lysosomes of muscle cells due to impaired glycogenolysis.[44]
Cori/Forbes disease (Glycogen storage disease type III) Sternocleidomastoid, trapezius and quadriceps muscles[45]/thigh muscles[5] Variable Hypertrophy[46] and pseudohypertrophy.[45][47] Abnormal glycogen accumulation within the cytosol of muscle cells due to impaired glycogenolysis.[47]
McArdle disease (Glycogen storage disease type V) Calf muscle[48][49]/deltoid and bicep muscles[49] Childhood-onset Muscle hypertrophy, lean calf muscles, abnormal glycogen accumulation within the cytosol of muscle cells due to impaired glycogenolysis.[48]
Muscular dystrophy, limb-girdle, type 1H

(As of 2017 was excluded from LGMD, but not yet assigned new nomenclature)[19]

 Calf muscle[18] Variable 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.[18]
Malnutrition

(poor diet, malabsorption diseases, or drug side effect such as lipase inhibitor Orlistat)[50]

 Vitamin D deficiency myopathy

(also known as osteomalacic myopathy)

 Calf muscle[34] Adult-onset (no rickets) Muscle hypertrophy in rare cases.[34][13] Commonly abnormal glycogen accumulation (impaired glycogenolysis), atrophy of type II (fast-twitch/glycolytic) muscle fibres, enlarged inter-fibrillar spaces;[51][52] rarely infiltration of fat (pseudohypertrophy), and fibrosis.[51] EMG myopathic low amplitude, short duration polyphasic MUAPs (motor unit action potentials).[52]
Vitamin D deficiency myopathy secondary to Celiac disease Calf muscle[34] Adult-onset

(no rickets)
Congenital myopathies Central core disease Calf muscle[13]
Centronuclear myopathy Calf muscle[13]
Congenital myopathy 9B, proximal, with minicore lesions Calf muscle[53] Infantile-onset Pseudohypertrophy 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.[53]
Tubular aggregate myopathy types 1 & 2

(genes STIM1, ORAI1)

 Calf muscle[54] Typically childhood-onset Hypertrophy 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.[55][54] Muscle oedema and fibrosis may accompany fatty infiltration.[56]
Myosin myopathies and Laing distal myopathy

(gene MYH7)

 Laing distal myopathy

(Myopathy, distal, 1; MPD1)

 Calf muscle[57][58] Variable. Typically childhood-onset Wide 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.[57][58]
Myosin storage myopathy

(Congenital myopathy 7A, myosin storage; CMYP7A)

 Calf muscle[57][59] Variable. Typically childhood-onset Wide 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.[57][59]
Tumours Infiltrating lipoma Calf muscle[43] Pseudohypertrophy
Short stature Myhre syndrome

(chronic denervation hypertrophy secondary to primary disease)

 General[10] Childhood-onset Muscle hypertrophy
Schwartz-Jampel syndrome Infantile-onset Muscle hypertrophy[60]
Uruguay faciocardiomusculoskeletal syndrome Early childhood-onset Muscle hypertrophy[61]
Nivelon-Nivelon-Mabille syndrome Prenatal-onset Muscle hypertrophy in some[62]
Satoyoshi syndrome General Childhood to early adolescence-onset Muscle hypertrophy[63]
Stormorken syndrome

(gene STIM1)

 Calf muscle[54] Childhood-onset Fatty 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, [54]
Face muscles Masseter muscle hypertrophy Masticatory muscles Adolescence-onset Muscle hypertrophy of the masticatory muscles (used for chewing food)[64]
Hemifacial myohyperplasia (HMH) Unilateral facial expression muscles and/or masticatory muscles Prenatal-onset Unilateral (one side of the face) hyperplasia in the muscles controlling facial expression and/or mastication (chewing)[65][10]
Other Syringomyelia

(cyst or cavity within spinal cord)

 Upper limbs/calf muscle[66] Muscle hypertrophy[66]
Peripheral nerve hyperexcitability syndromes

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

Upper limbs/calf muscle[66] Muscle hypertrophy[66]
Strongman syndrome

(Muscle hypertrophy syndrome, myalgic)

 General Childhood-onset Muscle hypertrophy[67][68]
Hypertrophia musculorum vera

(Latin for true muscle hypertrophy)

 Calf muscle/masseter muscle[69][70] 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.[69][70]
Habitual toe walking secondary to autism spectrum disorder Calf muscle[34] Childhood-onset Muscle hypertrophy

Skin and other non-muscle tissue

Disease grouping Disease Body part(s) typically affected Age of onset Biopsy, ultrasonography, CT scan or MRI
Lipomatosis Madelung disease Upper trunk Adult-onset Subcutaneous adipose tissue
Parasitic Disseminated cysticercosis Skin/General Variable Pork tapeworm cysts
Inflammation of the joint Amyloidosis shoulders "shoulder pad sign"[71] Adult-onset Amyloid deposits, significant thickening of the subdeltoid bursa[71]

See also

References

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  2. ↑ Cheng, Chun-Yu (2023-01-11). "Pseudo-athletic appearance from excess alcohol use". BMJ. 380: e072885. doi:10.1136/bmj-2022-072885. ISSN 1756-1833. S2CID 255570540.
  3. ↑ "Myotonia Congenita - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2023-06-12.
  4. 1 2 3 4 5 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. doi:10.1016/j.pmr.2011.11.014. ISSN 1047-9651. PMC 5951392. PMID 22239881.
  5. 1 2 3 Walters, Jon (October 2017). "Muscle hypertrophy and pseudohypertrophy". Practical Neurology. 17 (5): 369–379. doi:10.1136/practneurol-2017-001695. ISSN 1474-7766. PMID 28778933.
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  24. ↑ "#613319 - MIYOSHI MUSCULAR DYSTROPHY 3; MMD3". omim.org. Retrieved 2023-07-03.
  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. doi:10.1136/jmedgenet-2014-102882. ISSN 1468-6244. PMID 26136523. S2CID 24276340.
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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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