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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.
See: This record
Unknown inheritance (Orphanet)
 
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

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).
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

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Congenital myopathies with "diagnostic" pathological features.
Korényi-Both A, Korényi-Both I
J Med 1987;18(2):93-107. PMID: 3323392
Zebra body myopathy. Clinical, histochemical and ultrastructural studies.
Lake BD, Wilson J
J Neurol Sci 1975 Apr;24(4):437-46. doi: 10.1016/0022-510x(75)90169-0. PMID: 163896

Prognosis

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).
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

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161

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