U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.
Ferreiro V, Giliberto F, Francipane L, Szijan I
Mol Diagn 2005;9(2):67-80. doi: 10.1007/BF03260074. PMID: 16137182
Progressive muscular dystrophy--Duchenne type. Controversies of the kinesitherapy treatment.
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
Progressive muscular dystrophy; a preliminary report on treatment with amino acids, folic acid and vitamins.
VAN METER JR
Calif Med 1953 Oct;79(4):297-9. PMID: 13094541Free PMC Article

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
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
Use of a computer simulator for training children with disabilities in the operation of a powered wheelchair.
Hasdai A, Jessel AS, Weiss PL
Am J Occup Ther 1998 Mar;52(3):215-20. doi: 10.5014/ajot.52.3.215. PMID: 9521997
Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.
Niemi KM, Sommer H, Kero M, Kanerva L, Haltia M
Arch Dermatol 1988 Apr;124(4):551-4. PMID: 3355199
Electromyographic findings in the so-called non-progressive myopathies.
Hausmanowa-Petrusewicz I, Ryniewicz B
J Neurol 1976 Feb 13;211(3):241-51. doi: 10.1007/BF00313234. PMID: 55490

Diagnosis

Progress in muscular dystrophy research with special emphasis on gene therapy.
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
Prominent R wave in lead V1: electrocardiographic differential diagnosis.
Mattu A, Brady WJ, Perron AD, Robinson DA
Am J Emerg Med 2001 Oct;19(6):504-13. doi: 10.1053/ajem.2001.25776. PMID: 11593472
Conduction study in human muscle fibers in situ--a useful technique for diagnosing myopathies.
Chino N, Noda Y, Oda N
Electroencephalogr Clin Neurophysiol 1984 Dec;58(6):513-6. doi: 10.1016/0013-4694(84)90040-3. PMID: 6209100
Adult form acid maltase deficiency -- a case report.
Akamatsu A, Nomoto R, Nagao H, Murakami H, Nonaka I, Tara M, Kato M
Jpn J Med 1982 Jul;21(3):203-9. doi: 10.2169/internalmedicine1962.21.203. PMID: 6815356
Muscular dystrophy, speculation on specificity.
EDWARDS CE
Med Ann Dist Columbia 1955 Nov;24(11):584-8. PMID: 13272477

Therapy

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
LDH isoenzymes in muscle diseases.
Dux L, László A, Mazareán H, Altorjay I
Acta Paediatr Acad Sci Hung 1980;21(1):19-26. PMID: 7446085
Proteins in muscular dystrophy.
WILSON GD
South Med J 1957 Apr;50(4):460-6. doi: 10.1097/00007611-195704000-00007. PMID: 13421923
Alpha-tocohydroquinone and muscle dystrophy.
HARRIS PL, MASON KE
Am J Clin Nutr 1956 Jul-Aug;4(4):402-5; discussion, 405-7. doi: 10.1093/ajcn/4.4.402. PMID: 13339712
"Wetherbee Ail"; the inheritance of progressive muscular atrophy as a dominant trait in two New England families.
BROWN MR
N Engl J Med 1951 Oct 25;245(17):645-7. doi: 10.1056/NEJM195110252451704. PMID: 14875225

Prognosis

Motor unit reorganization in progressive muscular dystrophies and congenital myopathies.
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
Use of a computer simulator for training children with disabilities in the operation of a powered wheelchair.
Hasdai A, Jessel AS, Weiss PL
Am J Occup Ther 1998 Mar;52(3):215-20. doi: 10.5014/ajot.52.3.215. PMID: 9521997
Cardiac involvement in progressive muscular dystrophy of the Duchenne type.
Ishikawa K
Jpn Heart J 1997 Mar;38(2):163-80. doi: 10.1536/ihj.38.163. PMID: 9201104
Therapeutic trials on progressive muscular dystrophy.
Satoyoshi E
Intern Med 1992 Jul;31(7):841-6. doi: 10.2169/internalmedicine.31.841. PMID: 1450492
Progressive muscular dystrophy in Denmark. Natural history, prevalence and incidence.
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

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
Use of a computer simulator for training children with disabilities in the operation of a powered wheelchair.
Hasdai A, Jessel AS, Weiss PL
Am J Occup Ther 1998 Mar;52(3):215-20. doi: 10.5014/ajot.52.3.215. PMID: 9521997
LDH isoenzymes in muscle diseases.
Dux L, László A, Mazareán H, Altorjay I
Acta Paediatr Acad Sci Hung 1980;21(1):19-26. PMID: 7446085
Electrocardiographic studies in female carriers of Duchenne muscular dystrophy.
Lukasik E
J Neurol 1975 Aug 1;209(4):279-85. doi: 10.1007/BF00314367. PMID: 51911
Observations on pentosuria in neuromuscular disorders.
DREW AL, SELVING BT
Neurology 1953 Aug;3(8):563-8. doi: 10.1212/wnl.3.8.563. PMID: 13087575

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...