Fukuyama congenital muscular dystrophy (FCMD); Walker-Warburg syndrome FKTN-related

Epidemiology

rare

Pathology

• brain malformations include:
  • cerebral & cerebellar micropolygyria
  • fibroglial proliferation of the leptomeninges
  • hydrocephalus
  • focal interhemispheric fusion
  • hypoplasia of the corticospinal tracts
• histologic changes in skeletal muscle are similar to those of Duchenne muscular dystrophy

Genetics

• caused by mutation in the gene encoding fukutin

Clinical manifestations

• generalized muscle weakness & hypotonia from early infancy
• most are unable to walk without support
• all are mentally retarded
• some have seizures

Diagnostic procedures

• abnormal electroencephalogram

Radiology

• abnormal CT scans.

More general terms

• muscular dystrophy

Additional terms

• social engineering

Database

• OMIM: https://mirror.omim.org/entry/253800