Fukuyama congenital muscular dystrophy , FCMD (skrót)

Presence of the symptoms stated above indicates Fukuyama congenital muscular dystrophy.

Fukuyama congenital muscular dystrophy causes abnormalities in the brain and often seizures.

Fukuyama congenital muscular dystrophy has a rather bleak prognosis.

There is no cure for Fukuyama congenital muscular dystrophy at this time and no definitive treatment exists.

In addition to the muscular abnormalities, Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts.

Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan.

Fukuyama congenital muscular dystrophy is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.

Fukuyama congenital muscular dystrophy (FCMD)

Miller-Dieker syndrome, muscle-brain-eye syndrome, Fukuyama congenital muscular dystrophy and Walker Warburg syndrome are genetic disorders associated with lissencephaly.

Cobblestone lissencephaly is typically seen in three different human congenital muscular dystrophy syndromes: Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease.

Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan.

It is present in a number of specific neurological diseases, notably multiple sclerosis and Fukuyama congenital muscular dystrophy, a specific disease cause by mutation in the Fukutin gene (FKTN).

Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients.