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Pseudoathletic appearance

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.

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

Skin and other non-muscle tissue

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. ^ a b c d e 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. ^ a b c d e f g h i j k l m n o 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.
  6. ^ a b 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 (in French and English) (25): 10–15. doi:10.1051/myolog/202225004. ISSN 2108-2219.
  7. ^ a b c 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. doi:10.1210/jc.2013-1297. ISSN 1945-7197. PMC 3733861. PMID 23783098.
  8. ^ a b c El-Darouti, Mohammad Ali; Al-Ali, Faiza Mohamed (2019), El-Darouti, Mohammad Ali; Al-Ali, Faiza Mohamed (eds.), "Loss of Subcutaneous Fat, Muscle Hypertrophy, Diabetes and Hyperlipidemia", Challenging Cases in Dermatology Volume 2: Advanced Diagnoses and Management Tactics, Cham: Springer International Publishing, pp. 7–11, doi:10.1007/978-3-030-21855-3_2, ISBN 978-3-030-21855-3, S2CID 202826748, retrieved 2023-10-12
  9. ^ "BECKWITH-WIEDEMANN SYNDROME; BWS". www.omim.org. Retrieved 2023-09-01.
  10. ^ a b c d e f g "Large Muscles". neuromuscular.wustl.edu. Retrieved 2023-07-03.
  11. ^ a b Delgado-Miguel, Carlos; Miguel-Ferrero, Miriam; Muñoz-Serrano, Antonio J.; Triana, Paloma; Martínez-González, Víctor; Rodríguez-Laguna, Lara; Boente, María del Carmen; Torrelo, Antonio; López-Gutiérrez, Juan C. (June 2021). "Congenital Aberrant Muscular Overgrowth of Hands and Feet in Patients With PIK3CA Overgrowth Spectrum: A Multicentric Study of Case Series". Journal of Vascular Anomalies. 2 (2): e010. doi:10.1097/JOVA.0000000000000010. ISSN 2690-2702.
  12. ^ a b Ogino, Toshihiko; Satake, Hiroshi; Takahara, Masatoshi; Kikuchi, Noriaki; Watanabe, Tadayosi; Iba, Kousuke; Ishii, Seiichi (June 2010). "Aberrant muscle syndrome: Hypertrophy of the hand and arm due to aberrant muscles with or without hypertrophy of the muscles". Congenital Anomalies. 50 (2): 133–138. doi:10.1111/j.1741-4520.2010.00277.x. ISSN 0914-3505. PMID 20214671.
  13. ^ a b 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.
  14. ^ a b c d e f g 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.
  15. ^ a b c d e f 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.
  16. ^ a b 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.
  17. ^ 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.
  18. ^ a b 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.
  19. ^ a b 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. 7 (4): 120–122. doi:10.17727/jmsr.2019/7-21.
  20. ^ a b 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. ISSN 0009-918X. PMID 8293616.
  21. ^ a b c d e 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.
  22. ^ Pegoraro, Elena; Hoffman, Eric P. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Limb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301582, retrieved 2023-12-25
  23. ^ a b c 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.
  24. ^ a b 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. hdl:10138/305127. ISSN 1873-2364. PMID 30055862. S2CID 51865029.
  25. ^ "Phenotypic Series - PS236670 - OMIM". omim.org. Retrieved 2023-09-30.
  26. ^ "Phenotypic Series - PS613155 - OMIM". www.omim.org. Retrieved 2023-07-03.
  27. ^ "Phenotypic Series - PS609308 - OMIM". omim.org. Retrieved 2023-09-30.
  28. ^ "#300696 - MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA". omim.org. Retrieved 2023-07-03.
  29. ^ a b 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. doi:10.1002/ana.410390513. hdl:1765/58319. ISSN 0364-5134. PMID 8619549.
  30. ^ "#613319 - MIYOSHI MUSCULAR DYSTROPHY 3; MMD3". omim.org. Retrieved 2023-07-03.
  31. ^ 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.
  32. ^ "#616231 - MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA". omim.org. Retrieved 2023-07-03.
  33. ^ a b Gamez, Josep; Armstrong, Judith; Shatunov, Alexey; Selva-O'Callaghan, Albert; Dominguez-Oronoz, Rosa; Ortega, Arantxa; Goldfarb, Lev; Ferrer, Isidre; Olivé, Montse (2009-02-15). "Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?". Journal of the Neurological Sciences. 277 (1–2): 167–171. doi:10.1016/j.jns.2008.10.019. ISSN 0022-510X. PMC 2760960. PMID 19027924.
  34. ^ a b c 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. doi:10.1007/s00415-018-9137-8. ISSN 0340-5354. PMC 6373352. PMID 30515627.
  35. ^ a b 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. doi:10.1152/physiolgenomics.00036.2018. ISSN 1094-8341. PMC 6293114. PMID 30345904.
  36. ^ "MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE; MFM9". www.omim.org. Retrieved 2023-12-27.
  37. ^ "#619040 - MYOFIBRILLAR MYOPATHY 10; MFM10". omim.org. Retrieved 2023-07-03.
  38. ^ a b "MYOFIBRILLAR MYOPATHY 11; MFM11". www.omim.org. Retrieved 2023-12-31.
  39. ^ a b "MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT". www.omim.org. Retrieved 2023-12-31.
  40. ^ a b "MYOPATHY, DISTAL, INFANTILE-ONSET". www.omim.org. Retrieved 2024-01-01.
  41. ^ a b 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. doi:10.1111/cge.12561. ISSN 1399-0004. PMID 25589244.
  42. ^ "MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE; MDRCMTT". www.omim.org. Retrieved 2024-01-01.
  43. ^ a b c 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.
  44. ^ a b 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.
  45. ^ 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. 121 (2): 131–135. doi:10.1111/j.1600-0404.2009.01228.x. PMID 20047568.
  46. ^ a b c 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.
  47. ^ a b "600332 - RIPPLING MUSCLE DISEASE 1; RMD1". omim.org. Retrieved 2023-07-03.
  48. ^ a b "#606072 - RIPPLING MUSCLE DISEASE 2; RMD2". omim.org. Retrieved 2023-07-03.
  49. ^ a b 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.
  50. ^ a b c d e f 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.
  51. ^ "Stiff-Person Syndrome - Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 2023-07-03.
  52. ^ 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.
  53. ^ a b c d 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.
  54. ^ a b 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.
  55. ^ Rajvanshi, Satyam; Philip, Rajeev; Rai, Gopal K.; Gupta, K. K. (May 2012). "Kocher-Debre-Semelaigne syndrome". Thyroid Research and Practice. 9 (2): 53. doi:10.4103/0973-0354.96047. ISSN 0973-0354.
  56. ^ a b Sinclair, Christopher; Gilchrist, James M.; Hennessey, James V.; Kandula, Manju (September 2005). "Muscle carnitine in hypo- and hyperthyroidism". Muscle & Nerve. 32 (3): 357–359. doi:10.1002/mus.20336. ISSN 0148-639X. PMID 15803480. S2CID 41839983.
  57. ^ a b 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.
  58. ^ a b 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.
  59. ^ a b c d 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.
  60. ^ a b 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.
  61. ^ a b Milisenda, José C.; Pujol, Teresa; Grau, Josep M. (2016-10-11). "Not only bright tongue sign in Pompe disease". Neurology. 87 (15): 1629–1630. doi:10.1212/WNL.0000000000003211. ISSN 0028-3878. PMID 27765823.
  62. ^ a b Karam, Chafic (2016-01-26). "Bright tongue sign in Pompe disease". Neurology. 86 (4): 401. doi:10.1212/WNL.0000000000002321. ISSN 0028-3878. PMID 26810423.
  63. ^ Sharma, Rohit. "Bright tongue sign | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 2023-11-20. 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.
  64. ^ a b 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.
  65. ^ 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.
  66. ^ a b 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.
  67. ^ a b 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. hdl:10578/19657. ISSN 1573-2665. PMID 29594644. S2CID 4394513.
  68. ^ a b c Pietrusz, Aleksandra; Scalco, Renata S.; Quinlivan, Ros (2018). "Resistance Exercise Training in McArdle Disease: Myth or Reality?". Case Reports in Neurological Medicine. 2018: 9658251. doi:10.1155/2018/9658251. ISSN 2090-6668. PMC 6186374. PMID 30363996Patient 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).{{cite journal}}: CS1 maint: postscript (link)
  69. ^ 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. 81 (11): 1182–1188. doi:10.1136/jnnp.2009.195040. ISSN 0022-3050. PMID 20861058.
  70. ^ 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. doi:10.1016/j.nmd.2007.06.327. ISSN 0960-8966.
  71. ^ 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. doi:10.1002/mus.25588. ISSN 1097-4598. PMID 28120463.
  72. ^ a b 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. doi:10.1002/mus.26074. ISSN 1097-4598. PMID 29350794.
  73. ^ a b c 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. doi:10.1002/mus.880160110. ISSN 0148-639X. PMID 8423832.
  74. ^ a b c d e f 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. doi:10.1136/jnnp.27.5.361. ISSN 0022-3050. PMC 495765. PMID 14213465.
  75. ^ a b c 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. doi:10.1093/hmg/ddt393. ISSN 0964-6906. PMC 3857942. PMID 23943793.
  76. ^ 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. doi:10.4103/1947-2714.112491 (inactive 2024-09-21). ISSN 2250-1541. PMC 3690793. PMID 23814767.{{cite journal}}: CS1 maint: DOI inactive as of September 2024 (link)
  77. ^ a b Polly, Patsie; Tan, Timothy C. (2014-04-16). "The role of vitamin D in skeletal and cardiac muscle function". Frontiers in Physiology. 5: 145. doi:10.3389/fphys.2014.00145. ISSN 1664-042X. PMC 3995052. PMID 24782788.
  78. ^ a b Yoshikawa, S.; Nakamura, T.; Tanabe, H.; Imamura, T. (June 1979). "Osteomalacic myopathy". Endocrinologia Japonica. 26 (Suppl): 65–72. doi:10.1507/endocrj1954.26.supplement_65. ISSN 0013-7219. PMID 467350.
  79. ^ a b van den Bersselaar, Luuk R.; van Alfen, Nens; Kruijt, Nick; Kamsteeg, Erik-Jan; Fernandez-Garcia, Miguel A.; Treves, Susan; Riazi, Sheila; Yang, Chu-Ya; Malagon, Ignacio; van Eijk, Lucas T.; van Engelen, Baziel G.M.; Scheffer, Gert-Jan; Jungbluth, Heinz; Snoeck, Marc M.J.; Voermans, Nicol C. (2023). "Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility". Journal of Neuromuscular Diseases. 10 (4): 541–554. doi:10.3233/JND-230018. ISSN 2214-3599. PMC 10357171. PMID 37154182.
  80. ^ a b "CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; CMYP5". www.omim.org. Retrieved 2023-12-31.
  81. ^ a b "#618823 - CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS; CMYP9B". omim.org. Retrieved 2023-07-03.
  82. ^ a b 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. doi:10.3988/jcn.2021.17.3.409. ISSN 1738-6586. PMC 8242322. PMID 34184449.
  83. ^ "CONGENITAL MYOPATHY 24; CMYP4". www.omim.org. Retrieved 2024-01-01.
  84. ^ a b c d 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. 41 (1): 17–37. doi:10.1002/humu.23899. ISSN 1059-7794. PMID 31448844. S2CID 201753610.
  85. ^ Cameron, C. H. Stuart; Allen, Ingrid V.; Patterson, Victor; Avaria, Maria A. (December 1992). "Dominantly inherited tubular aggregate myopathy". The Journal of Pathology. 168 (4): 397–403. doi:10.1002/path.1711680410. ISSN 0022-3417. PMID 1484321. S2CID 3241237.
  86. ^ 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. 18 (5): e0285422. Bibcode:2023PLoSO..1885422L. doi:10.1371/journal.pone.0285422. ISSN 1932-6203. PMC 10166478. PMID 37155641.
  87. ^ a b c d Tajsharghi, Homa; Oldfors, Anders (January 2013). "Myosinopathies: pathology and mechanisms". Acta Neuropathologica. 125 (1): 3–18. doi:10.1007/s00401-012-1024-2. ISSN 1432-0533. PMC 3535372. PMID 22918376.
  88. ^ a b "MYOPATHY, DISTAL, 1; MPD1". www.omim.org. Retrieved 2023-09-23.
  89. ^ a b "CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYP7A". www.omim.org. Retrieved 2023-09-23.
  90. ^ 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. doi:10.1007/s11420-019-09669-z. ISSN 1556-3316. PMC 6973789. PMID 32015745.
  91. ^ "#255800 - SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1". omim.org. Retrieved 2023-07-03.
  92. ^ "#300280 - URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU". www.omim.org. Retrieved 2023-07-03.
  93. ^ "#600092 - NIVELON-NIVELON-MABILLE SYNDROME; NNMS". omim.org. Retrieved 2023-07-03.
  94. ^ "SATOYOSHI SYNDROME". www.omim.org. Retrieved 2023-09-01.
  95. ^ "606773 - HEMIFACIAL MYOHYPERPLASIA; HMH". www.omim.org. Retrieved 2023-07-03.
  96. ^ a b Ţarcă, Elena; Cojocaru, Elena; Luca, Alina Costina; Trandafir, Laura Mihaela; Roşu, Solange Tamara; Munteanu, Valentin; Țarcă, Viorel; Budacu, Cristian Constantin; Costea, Claudia Florida (2022-02-16). "Unusual Case of Masseter Muscle Hypertrophy in Adolescence—Case Report and Literature Overview". Diagnostics. 12 (2): 505. doi:10.3390/diagnostics12020505. ISSN 2075-4418. PMC 8871523. PMID 35204595.
  97. ^ "154850 - MASTICATORY MUSCLES, HYPERTROPHY OF". www.omim.org. Retrieved 2023-07-03.
  98. ^ a b c d 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. doi:10.4103/aian.aian_486_22. ISSN 0972-2327. PMC 9996497. PMID 36911462.
  99. ^ a b "EPISODIC ATAXIA, TYPE 1; EA1". www.omim.org. Retrieved 2023-12-27.
  100. ^ a b "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23". www.omim.org. Retrieved 2023-12-31.
  101. ^ a b c Murayama, T.; Mano, K.; Watanabe, H.; Honda, H.; Sugimura, K. (October 1991). "[A family with autosomal dominant hereditary myoedema, muscular irritability, stiffness and hypertrophy]". Rinsho Shinkeigaku = Clinical Neurology. 31 (10): 1118–1123. ISSN 0009-918X. PMID 1802468.
  102. ^ Sadeh, M.; Berg, M.; Sandbank, U. (March 1990). "Familial myoedema, muscular hypertrophy and stiffness". Acta Neurologica Scandinavica. 81 (3): 201–204. doi:10.1111/j.1600-0404.1990.tb00966.x. ISSN 0001-6314. PMID 2353568.
  103. ^ 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).
  104. ^ 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. doi:10.1016/j.nmd.2016.06.038. ISSN 0960-8966. S2CID 54367645.
  105. ^ a b "HYPERTROPHIA MUSCULORUM VERA". omim.org. Retrieved 2023-09-23.
  106. ^ a b 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. doi:10.1016/0022-510x(71)90251-6. ISSN 0022-510X. PMID 5100002.
  107. ^ a b 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.
  108. ^ "Baker cyst - Symptoms and causes". Mayo Clinic. Retrieved 2024-01-06.

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