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Progressive muscular dystrophy

MedGen UID:
1633060
Concept ID:
C4551827
Disease or Syndrome
Synonyms: Hereditary progressive muscular dystrophy; progressive muscular dystrophy
SNOMED CT: Hereditary progressive muscular dystrophy (193225000)
 
Monarch Initiative: MONDO:0016106
Orphanet: ORPHA206644

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive muscular dystrophy

Professional guidelines

PubMed

de Araujo Leitão AV, Duro LA, de Andrade Penque GM
Sao Paulo Med J 1995 Sep-Oct;113(5):995-9. doi: 10.1590/s1516-31801995000500007. PMID: 8729744
WALD SM, LAM RL
Neurology 1955 Dec;5(12):887-90. doi: 10.1212/wnl.5.12.887. PMID: 13272799
VAN METER JR
Calif Med 1953 Oct;79(4):297-9. PMID: 13094541Free PMC Article

Recent clinical studies

Etiology

Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP
Nat Commun 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. PMID: 35484142Free PMC Article
Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM
Muscle Nerve 2022 Jul;66(1):50-62. Epub 2022 May 9 doi: 10.1002/mus.27558. PMID: 35428982Free PMC Article
Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU
J Mol Neurosci 2008 Mar;34(3):241-8. Epub 2008 Jan 18 doi: 10.1007/s12031-007-9023-9. PMID: 18202836
Ishikawa K
Jpn Heart J 1997 Mar;38(2):163-80. doi: 10.1536/ihj.38.163. PMID: 9201104
Leth A, Wulff K, Corfitsen M, Elmgreen J
Acta Paediatr Scand 1985 Nov;74(6):881-5. doi: 10.1111/j.1651-2227.1985.tb10052.x. PMID: 4090963

Diagnosis

Chen X, Agiro A, Martin AS, Lucas AM, Haynes K
BMC Med Res Methodol 2019 Aug 9;19(1):174. doi: 10.1186/s12874-019-0816-7. PMID: 31399066Free PMC Article
Szmidt-Sałkowska E, Gaweł M, Lipowska M
Neurol Neurochir Pol 2015;49(4):223-8. Epub 2015 Jun 6 doi: 10.1016/j.pjnns.2015.05.005. PMID: 26188938
Angelini C
Acta Myol 2004 Dec;23(3):130-6. PMID: 15938568
Osawa M, Arai Y, Ikenaka H, Murasugi H, Sugahara N, Sumida S, Okada N, Shishikura K, Suzuki H, Hirayama Y
Acta Paediatr Jpn 1991 Apr;33(2):261-9. doi: 10.1111/j.1442-200x.1991.tb01552.x. PMID: 1957653
Leth A, Wulff K
Acta Paediatr Scand 1976 Jan;65(1):28-32. doi: 10.1111/j.1651-2227.1976.tb04403.x. PMID: 1251722

Therapy

Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM
Muscle Nerve 2022 Jul;66(1):50-62. Epub 2022 May 9 doi: 10.1002/mus.27558. PMID: 35428982Free PMC Article
Brun BN, Mockler SR, Laubscher KM, Stephan CM, Collison JA, Zimmerman MB, Mathews KD
J Child Neurol 2017 Feb;32(2):204-209. Epub 2016 Nov 22 doi: 10.1177/0883073816677680. PMID: 27872178Free PMC Article
Sugita H, Takeda S
Proc Jpn Acad Ser B Phys Biol Sci 2010;86(7):748-56. doi: 10.2183/pjab.86.748. PMID: 20689232Free PMC Article
Satoyoshi E
Intern Med 1992 Jul;31(7):841-6. doi: 10.2169/internalmedicine.31.841. PMID: 1450492
VAN METER JR
Calif Med 1953 Oct;79(4):297-9. PMID: 13094541Free PMC Article

Prognosis

Szmidt-Sałkowska E, Gaweł M, Lipowska M
Neurol Neurochir Pol 2015;49(4):223-8. Epub 2015 Jun 6 doi: 10.1016/j.pjnns.2015.05.005. PMID: 26188938
Angelini C
Acta Myol 2004 Dec;23(3):130-6. PMID: 15938568
Ishikawa K
Jpn Heart J 1997 Mar;38(2):163-80. doi: 10.1536/ihj.38.163. PMID: 9201104
Satoyoshi E
Intern Med 1992 Jul;31(7):841-6. doi: 10.2169/internalmedicine.31.841. PMID: 1450492
Leth A, Wulff K, Corfitsen M, Elmgreen J
Acta Paediatr Scand 1985 Nov;74(6):881-5. doi: 10.1111/j.1651-2227.1985.tb10052.x. PMID: 4090963

Clinical prediction guides

Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM
Muscle Nerve 2022 Jul;66(1):50-62. Epub 2022 May 9 doi: 10.1002/mus.27558. PMID: 35428982Free PMC Article
Chen X, Agiro A, Martin AS, Lucas AM, Haynes K
BMC Med Res Methodol 2019 Aug 9;19(1):174. doi: 10.1186/s12874-019-0816-7. PMID: 31399066Free PMC Article
Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU
J Mol Neurosci 2008 Mar;34(3):241-8. Epub 2008 Jan 18 doi: 10.1007/s12031-007-9023-9. PMID: 18202836
Ishikawa K
Jpn Heart J 1997 Mar;38(2):163-80. doi: 10.1536/ihj.38.163. PMID: 9201104
Ben Hamida M, Miladi N, Turki I, Zaiem H
J Neurol Sci 1992 Jan;107(1):60-4. doi: 10.1016/0022-510x(92)90209-4. PMID: 1578235

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