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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

Treatment of progressive muscular dystrophy by combined infusions of glucose and insulin.
Blietz RJ
Ger Med Mon 1966 Jul;11(7):280-5. PMID: 5911163
ANABOLIC STEROIDS AND DIGITOXIN IN THE TREATMENT OF PROGRESSIVE MUSCULAR DYSTROPHY.
HEYCK H, LAUDAHN G, LUEDERS CJ, MUELLER-STEPHANN H, SCHMIDT-PETER P
Acta Paediatr Scand 1965 May;54:205-17. doi: 10.1111/j.1651-2227.1965.tb06364.x. PMID: 14313408
Treatment of muscular dystrophy with amino acids and vitamins.
WALD SM, LAM RL
Neurology 1955 Dec;5(12):887-90. doi: 10.1212/wnl.5.12.887. PMID: 13272799

Recent clinical studies

Etiology

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
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
Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.
Beckmann JS, Bushby KM
Curr Opin Neurol 1996 Oct;9(5):389-93. doi: 10.1097/00019052-199610000-00013. PMID: 8894416
Effects of electrical stimulation on muscles of children with Duchenne and Becker muscular dystrophy.
Zupan A, Gregoric M, Valencic V, Vandot S
Neuropediatrics 1993 Aug;24(4):189-92. doi: 10.1055/s-2008-1071537. PMID: 8232775
Childhood progressive muscular dystrophy and the role of physical therapy.
Harris SE, Cherry DB
Phys Ther 1974 Jan;54(1):4-12. doi: 10.1093/ptj/54.1.4. PMID: 4418859
The vectorcardiogram in Duchenne's progressive muscular dystrophy.
Ronan JA Jr, Perloff JK, Bowen PJ, Mann O
Am Heart J 1972 Nov;84(5):588-96. doi: 10.1016/0002-8703(72)90172-x. PMID: 4639732

Diagnosis

50 years ago in the Journal of Pediatrics: the use of serum creatine phosphokinase and other serum enzymes in the diagnosis of progressive muscular dystrophy.
Proud CM
J Pediatr 2013 Dec;163(6):1656. doi: 10.1016/j.jpeds.2013.06.015. PMID: 24274203
Childhood progressive muscular dystrophy and the role of physical therapy.
Harris SE, Cherry DB
Phys Ther 1974 Jan;54(1):4-12. doi: 10.1093/ptj/54.1.4. PMID: 4418859
Diagnosis of progressive muscular dystrophy.
Vignos PJ Jr
J Bone Joint Surg Am 1967 Sep;49(6):1212-20. PMID: 6038870
The Frank vectorcardiogram and the electrocardiogram in Duchenne progressive muscular dystrophy.
Fitch CW, Ainger LE
Circulation 1967 Jun;35(6):1124-40. doi: 10.1161/01.cir.35.6.1124. PMID: 6026203
Progressive muscular dystrophy. (Literature review).
Siregar H
Paediatr Indones 1965 Jul-Dec;5(3):76-88. PMID: 5334619

Therapy

Therapeutic trials on progressive muscular dystrophy.
Satoyoshi E
Intern Med 1992 Jul;31(7):841-6. doi: 10.2169/internalmedicine.31.841. PMID: 1450492
Coenzymatic therapy in progressive muscular dystrophy.
Radu H
Lancet 1973 Sep 8;2(7828):576. doi: 10.1016/s0140-6736(73)92406-9. PMID: 4125348
Treatment of progressive muscular dystrophy by combined infusions of glucose and insulin.
Blietz RJ
Ger Med Mon 1966 Jul;11(7):280-5. PMID: 5911163
Muscular dystrophy. VIII. Trials of protein hydrolysate, vitamin supplements, and physical therapy.
DONALDSON JS, WRATNEY MJ, PASCASSIO A, WEIGAND FA, DANOWSKI TS
AMA J Dis Child 1956 May;91(5):449-53. doi: 10.1001/archpedi.1956.02060020451005. PMID: 13312881
Treatment of muscular dystrophy with amino acids and vitamins.
WALD SM, LAM RL
Neurology 1955 Dec;5(12):887-90. doi: 10.1212/wnl.5.12.887. PMID: 13272799

Prognosis

A 15-year-old male with progressive muscular dystrophy of the becker type and severe heart failure.
Arq Bras Cardiol 2000 Apr;74(4):360-4. doi: 10.1590/s0066-782x2000000400008. PMID: 10967589
Childhood progressive muscular dystrophy and the role of physical therapy.
Harris SE, Cherry DB
Phys Ther 1974 Jan;54(1):4-12. doi: 10.1093/ptj/54.1.4. PMID: 4418859
Natural history of progressive muscular dystrophy.
Kobayashi A, Tokunaga J, Oshiro T, Iwamoto A
Nihon Seikeigeka Gakkai Zasshi 1969 Apr;43(4):323-34. PMID: 5816664
The Frank vectorcardiogram and the electrocardiogram in Duchenne progressive muscular dystrophy.
Fitch CW, Ainger LE
Circulation 1967 Jun;35(6):1124-40. doi: 10.1161/01.cir.35.6.1124. PMID: 6026203
Recent treatment of progressive muscular dystrophy.
Tunbridge PB, Diamond C
Med J Aust 1966 Jun 4;1(23):962-5. doi: 10.5694/j.1326-5377.1966.tb73153.x. PMID: 5939994

Clinical prediction guides

Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.
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
Brown adipose tissue in Duchenne's progressive muscular dystrophy.
Ito M, Sekine I, Fujii H, Ogawa M
Arch Pathol Lab Med 1988 May;112(5):550-2. PMID: 3358657
A family of progressive muscular dystrophy with mental retardation. Clinical observations.
Suga M, Yoshimuta S, Hayashi Y, Sakamoto F
Jinrui Idengaku Zasshi 1966 Mar;10(4):189-92. PMID: 6008646
CLINICAL, HEMODYNAMIC, ELECTROCARDIOGRAPHIC, AND VECTORCARDIOGRAPHIC OBSERVATIONS IN PROGRESSIVE MUSCULAR DYSTROPHY OF 34 YEARS' DURATION.
DUKE M, CROSBY DJ
Am Heart J 1964 Feb;67:251-7. doi: 10.1016/0002-8703(64)90376-x. PMID: 14118493
Clinical and EEG observations in patients with progressive muscular dystrophy.
WAYNE HL, BROWNE-MAYERS AN
Dis Nerv Syst 1959 Jul;20(7):288-91. PMID: 13663795

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    • ClinVar
      Related medical variations
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      Related information in GTR
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      Clinical tests in GTR
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