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Zebra body myopathy

MedGen UID:
543080
Concept ID:
C0270969
Disease or Syndrome
Synonym: zebra body myopathy
SNOMED CT: Zebra body myopathy (34513009)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0019949
Orphanet: ORPHA97240

Definition

Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the <i>alpha-skeletal actin</i> (<i>ACTA1</i>) gene may be involved. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVZebra body myopathy
Follow this link to review classifications for Zebra body myopathy in Orphanet.

Recent clinical studies

Etiology

Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Sewry CA, Holton JL, Dick DJ, Muntoni F, Hanna MG
Neuromuscul Disord 2015 May;25(5):388-91. Epub 2015 Feb 14 doi: 10.1016/j.nmd.2015.02.003. PMID: 25747004

Diagnosis

Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Korényi-Both A, Korényi-Both I
J Med 1987;18(2):93-107. PMID: 3323392
Lake BD, Wilson J
J Neurol Sci 1975 Apr;24(4):437-46. doi: 10.1016/0022-510x(75)90169-0. PMID: 163896

Prognosis

Sewry CA, Holton JL, Dick DJ, Muntoni F, Hanna MG
Neuromuscul Disord 2015 May;25(5):388-91. Epub 2015 Feb 14 doi: 10.1016/j.nmd.2015.02.003. PMID: 25747004

Clinical prediction guides

Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161

Supplemental Content

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