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 result in muscle inflammation (swelling), muscle hyperplasia, muscle hypertrophy, muscle pseudohypertrophy (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]

Causes

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 grouping Disease Muscle(s) typically affected Ange of onset Biopsy, ultrasonography, CT scan or MRI
MSTN gene Myostatin-related muscle hypertrophy General Prenatal Myofibre hyperplasia and decreased adipose tissue
Parasitic Disseminated muscular cysticercosis syndrome[5] General Variable Pork tapeworm cysts[5]
Trichinosis[6] 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[7][8]/general
Sarcoid granulomas/Sarcoidosis Calf muscle[7]/general Deposits of sarcoid granulomas
Amyloid deposits/Amyloidosis Calf muscle[7]/general[9] Amyloid deposits[9]
Ossification Fibrodysplasia ossificans progressiva (formerly known as myositis ossificans progressive) General Episodic inflammatory flare-ups involving skeletal muscle (myositis) secondary to muscle tissue turning into bone (ossification)[6][10]
Muscular dystrophy Duchenne muscular dystrophy Calf muscle/general[4] Childhood-onset Muscle hypertrophy and/or pseudohypertrophy by infiltration of fatty tissue[4]
Becker muscular dystrophy Calf muscle/general[4][11] Variable Muscle hypertrophy and/or pseudohypertrophy by infiltration of fatty tissue[4]
Facioscapulohumeral muscular dystrophy Calf muscle[8]
Limb-girdle muscular dystrophy (LGMD) Calf muscle[11][12] Variable Classic dystrophic changes include myonecrosis and regeneration, variations in muscle fibre size, myofibrosis, fatty infiltration (pseudohypertrophy).[12] 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).[13][14]
Congenital muscular dystrophy-dystroglycanopathy type B

(types B1, B2, B5, B6)

Hypertrophy and/or pseudohypertrophy by fatty infiltration of muscle[15]
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[16]
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.[17]
Myopathy, vacuolar, with CASQ1 aggregates Calf muscles Adolescence to adult-onset Calf muscle hypertrophy in some.[18] Muscle biopsy shows vacuoles predominantly in type 2 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.[19]
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 muscle fibres, irregular intermyofibrillar network, autophagic vacuoles with lipoprotein deposits, and sarcolemmal abnormalities.[20]
Non-dystrophic myotonias and pseudomyotonias

(delayed muscle relaxation)

 Myotonia congenita

(Chloride channelopathy, CLCN1 gene)

 Calf muscle/general[21][22]
Potassium-aggravated myotonia, paramyotonia congenita

(Sodium channelopathy, SCN4A gene)

 Calf muscle/general[21][22]
Brody disease Calf muscle[21][23] Variable[23]
Rippling muscle disease Muscle hypertrophy. Muscle activity is electrically silent on EMG.[24][25]
Lipodystrophy Köbberling–Dunnigan syndrome Calf muscle/general[26] Adolescence-onset Hypertrophy of calf muscles[26]
Congenital generalized lipodystrophy General Infantile-onset Muscle hypertrophy
Spasticity Spastic cerebral palsy Calf muscle[27] Childhood-onset accumulation of hydroxyproline (aminoacid exclusive to collagen) in calf muscles[27]
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[28][29]
Denervation (pseudo)hypertrophy Peripheral nerve traumatic injury Calf muscle[30] Variable
Disorders of the anterior horn cells (such as poliomyelitis and spinal muscular atrophy) Calf muscle[30]
Radiculopathy

(pinched nerve)

 Calf muscle[30]/thigh muscle[31] Adult-onset Variable. Fatty infiltration of calf muscle (pseudohypertrophy),[30] true hypertrophy of thigh muscle[31]
Endocrine myopathies Kocher–Debre–Semelaigne syndrome Calf muscle[7]/general Childhood-onset
Hoffmann syndrome Calf muscle[7]/general Adult-onset Variable.[7][32][33]
Denervation pseudohypertrophy of calf muscles secondary to diabetic neuropathy Calf muscle[34] Adult-onset Fatty infiltration of calf muscles (pseudohypertrophy) and myofibrosis[34]
Acromegaly General Muscle hypertrophy
Metabolic myopathies Late-onset Pompe disease (Glycogen storage disease type II) Calf muscle[35] Variable (childhood to adulthood, but not infantile-onset) Muscle hypertrophy, abnormal lysosomal glycogen accumulation[35]
Cori/Forbes disease (Glycogen storage disease type III) Sternocleidomastoid, trapezius and quadriceps muscles[36] Variable Hypertrophy[37] and pseudohypertrophy[36][38]
McArdle disease (Glycogen storage disease type V) Calf muscle[39] Childhood-onset Muscle hypertrophy, lean calf muscles, abnormal glycogen accumulation[39]
Muscular dystrophy, limb-girdle, type 1H

(As of 2017 was excluded from LGMD, but not yet assigned new nomenclature)[14]

 Calf muscle[13] Variable Muscle fibre type variation, muscle hypertrophy, ragged red fibres, absence of cytochrome c oxidase staining, evidence of mtDNA deletions, defective oxidative phosphorylation suggestive of mitochondrial myopathy.[13]
Congenital myopathies Central core disease Calf muscle[8]
Centronuclear myopathy Calf muscle[8]
Congenital myopathy 9B, proximal, with minicore lesions Calf muscle Infantile Pseudohypertrophy due to fatty infiltration. Biopsy shows type 1 fibre predominance, increased internal nuclei, Z-band streaming, and minicores that disrupt the myofibrillar striation pattern.[40]
Tumours Infiltrating lipoma Calf muscle[34]
Short stature Myhre syndrome (chronic denervation hypertrophy secondary to primary disease) General[6] Childhood-onset Muscle hypertrophy
Schwartz-Jampel syndrome Infantile-onset Muscle hypertrophy[41]
Uruguay faciocardiomusculoskeletal syndrome early childhood-onset Muscle hypertrophy[42]
Nivelon-Nivelon-Mabille syndrome prenatal-onset Muscle hypertrophy in some[43]
Face muscles Masseter muscle hypertrophy Masticatory muscles Adolescence-onset Muscle hypertrophy of the masticatory muscles (used for chewing food)[44]
Hemifacial myohyperplasia (HMH) Unilateral facial expression muscles and/or masticatory muscles prenatal-onset Unilateral (one half of the face) hyperplasia in the muscles controlling facial expression and/or mastication (chewing)[45][6]
Other Vitamin D deficiency Calf muscle[27]
Celiac disease Calf muscle[27]
Habitual toe walking secondary to autism spectrum disorder Calf muscle[27] Childhood-onset

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 grouping Disease Body part(s) typically affected Age of onset Biopsy, ultrasonography, CT scan or MRI
Lipodystrophy 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"[46] Amyloid deposits, significant thickening of the subdeltoid bursa[46]

See also

References

  1. ↑ "pseudoathletic", Wiktionary, 2016-06-02, retrieved 2023-06-12
  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 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. doi:10.1016/S1995-7645(12)60192-8. ISSN 2352-4146. PMID 23199724.
  6. 1 2 3 4 "Large Muscles". neuromuscular.wustl.edu. Retrieved 2023-07-03.
  7. 1 2 3 4 5 6 Mangaraj, Swayamsidha; Sethy, Ganeswar (2014). "Hoffman's syndrome – A rare facet of hypothyroid myopathy". Journal of Neurosciences in Rural Practice. 5 (4): 447–448. doi:10.4103/0976-3147.140025. ISSN 0976-3147. PMC 4173264. PMID 25288869.
  8. 1 2 3 4 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. doi:10.1016/s0022-510x(96)00037-8. ISSN 0022-510X. PMID 8981297. S2CID 25971689.
  9. 1 2 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. doi:10.1002/art.10422. ISSN 0004-3591. PMID 12209535.
  10. ↑ 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. doi:10.1186/1750-1172-6-80. ISSN 1750-1172. PMC 3253727. PMID 22133093.
  11. 1 2 de Visser, Marianne (2020-12-01). "Late-onset myopathies: clinical features and diagnosis". Acta Myologica. 39 (4): 235–244. doi:10.36185/2532-1900-027. ISSN 1128-2460. PMC 7783434. PMID 33458579.
  12. 1 2 Chu, Mary Lynn; Moran, Ellen (October 2018). "The Limb–Girdle Muscular Dystrophies: Is Treatment on the Horizon?". Neurotherapeutics. 15 (4): 849–862. doi:10.1007/s13311-018-0648-x. ISSN 1933-7213. PMC 6277288. PMID 30019308.
  13. 1 2 3 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. doi:10.1038/ejhg.2009.235. ISSN 1018-4813. PMC 2987336. PMID 20068593.
  14. 1 2 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. doi:10.1016/j.nmd.2018.05.007. ISSN 1873-2364. PMID 30055862. S2CID 51865029.
  15. ↑ "Phenotypic Series - PS613155 - OMIM". www.omim.org. Retrieved 2023-07-03.
  16. ↑ "#300696 - MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA". omim.org. Retrieved 2023-07-03.
  17. ↑ "#613319 - MIYOSHI MUSCULAR DYSTROPHY 3; MMD3". omim.org. Retrieved 2023-07-03.
  18. ↑ 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.
  19. ↑ "#616231 - MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA". omim.org. Retrieved 2023-07-03.
  20. ↑ "#619040 - MYOFIBRILLAR MYOPATHY 10; MFM10". omim.org. Retrieved 2023-07-03.
  21. 1 2 3 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. doi:10.1002/mus.26887. ISSN 0148-639X. PMC 8117169. PMID 32270509.
  22. 1 2 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. doi:10.1093/brain/awt133. ISSN 0006-8950. PMC 3692030. PMID 23771340.
  23. 1 2 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. doi:10.1093/brain/awz410. ISSN 1460-2156. PMC 7009512. PMID 32040565.
  24. ↑ "600332 - RIPPLING MUSCLE DISEASE 1; RMD1". omim.org. Retrieved 2023-07-03.
  25. ↑ "#606072 - RIPPLING MUSCLE DISEASE 2; RMD2". omim.org. Retrieved 2023-07-03.
  26. 1 2 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. 19 (7): 843–847. doi:10.1002/(SICI)1097-4598(199607)19:7<843::AID-MUS5>3.0.CO;2-9. ISSN 0148-639X. PMID 8965837. S2CID 46022844 – via Wiley Online Library.
  27. 1 2 3 4 5 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. doi:10.4103/jpn.JPN_171_20. ISSN 1817-1745. PMC 8706592. PMID 35018192.
  28. ↑ "Stiff-Person Syndrome - Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 2023-07-03.
  29. ↑ Newsome, Scott D.; Johnson, Tory (2022-08-15). "Stiff person syndrome spectrum disorders; more than meets the eye". Journal of Neuroimmunology. 369: 577915. doi:10.1016/j.jneuroim.2022.577915. ISSN 1872-8421. PMC 9274902. PMID 35717735.
  30. 1 2 3 4 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. doi:10.1016/j.radcr.2022.02.066. ISSN 1930-0433. PMC 8956883. PMID 35345565.
  31. 1 2 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. doi:10.25259/SNI_857_2021. ISSN 2229-5097. PMC 8571211. PMID 34754572.
  32. ↑ 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. doi:10.36185/2532-1900-017. ISSN 1128-2460. PMC 7711326. PMID 33305169.
  33. ↑ 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. ISSN 1612-3174. PMC 2703243. PMID 19675722.
  34. 1 2 3 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. doi:10.1016/j.radcr.2017.06.011. ISSN 1930-0433. PMC 5823303. PMID 29484078.
  35. 1 2 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. 4 (2): 251. doi:10.4103/2321-4848.196188. ISSN 2321-4848. S2CID 58424073.
  36. 1 2 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. doi:10.1007/BF00314902. ISSN 0340-5354. PMID 2809644. S2CID 21158814.
  37. ↑ 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. ISSN 0009-918X. PMID 6317246.
  38. ↑ 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. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1530-0366. PMID 20631546. S2CID 4609175.
  39. 1 2 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. doi:10.1007/s10545-018-0170-7. ISSN 1573-2665. PMID 29594644. S2CID 4394513.
  40. ↑ "#618823 - CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS; CMYP9B". omim.org. Retrieved 2023-07-03.
  41. ↑ "#255800 - SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1". omim.org. Retrieved 2023-07-03.
  42. ↑ "#300280 - URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU". www.omim.org. Retrieved 2023-07-03.
  43. ↑ "#600092 - NIVELON-NIVELON-MABILLE SYNDROME; NNMS". omim.org. Retrieved 2023-07-03.
  44. ↑ "154850 - MASTICATORY MUSCLES, HYPERTROPHY OF". www.omim.org. Retrieved 2023-07-03.
  45. ↑ "606773 - HEMIFACIAL MYOHYPERPLASIA; HMH". www.omim.org. Retrieved 2023-07-03.
  46. 1 2 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. doi:10.4274/tjh.galenos.2021.2021.0630. ISSN 1300-7777. PMC 8386310. PMID 34014054.

Further reading

Large or prominent muscles - Neuromuscular disease centre, Washington University

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