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GENATLAS PHENOTYPE

last update : 20-01-2015

Symbol	FCMD
Location	9q31.2
Name	Fukuyama congenital muscular dystrophy
Other name(s)	muscular dystrophy, progressive with mental retardation muscular dystrophy with central nervous system involvement micropolygyria with muscular dystrophy
Corresponding gene	FKTN
Main clinical features	most common in the Japanese population associated with brain malformation, essentially micropolygyria, pachygyria and agyria (Cobblestone, type 2, lissencephaly), abnormal eye movements and peripheral retinal dysplasia and moderate mental retardation agenesis of corpus callosum associated to hypoglycosylation of dystroglycan on MRI, increased white- matter signal intensity, with peripheral sparing, brainstem and cerebellar abnormalities, ventricular enlargement
Genetic determination	autosomal recessive
Prevalence	3-10/100000
Related entries	. including some severe Walker-Warburg-like manifestations such as hydrocephalus and microphthalmia
Function/system disorder	congenital malformation
	eye
	neuromuscular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
insertion			in the 3'untranslated region

Remark(s)

deficiency of highly glycosylated alpha dystroglycan on surface of muscle fibers mutations in fukutin cause abnormal glycosylation of cell surface alpha-dystroglycan which in turn reduces its laminin-binding activity (PMID: 22771323))