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Fukuyama congenital muscular dystrophy (FCMD); Walker-Warburg syndrome FKTN-related
Epidemiology: rare
Pathology:
1) brain malformations include:
a) cerebral & cerebellar micropolygyria
b) fibroglial proliferation of the leptomeninges
c) hydrocephalus
d) focal interhemispheric fusion
e) hypoplasia of the corticospinal tracts
2) histologic changes in skeletal muscle are similar to those of Duchenne muscular dystrophy
Genetics:
- caused by mutation in the gene encoding fukutin
Clinical manifestations:
1) generalized muscle weakness & hypotonia from early infancy
2) most are unable to walk without support
3) all are mentally retarded
4) some have seizures
Special laboratory:
- abnormal electroencephalogram
Radiology:
- abnormal CT scans.
Related
social engineering
General
muscular dystrophy
Database Correlations
OMIM 253800
References
OMIM :accession 253800