Fukuyama Congenital Muscular Dystrophy - Diagnosis

Diagnosis

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

• Decreased muscle tone in infancy and contractures in the lower limbs and the toes.
• Below average motor and speech skills
• Abnormal facial features including a partially open mouth and drooping eyes
• Seizures
• Family history of FCMD
• MRI indicating cobblestone lissencephaly including smooth, braodly bumped surface, indications of delayed mielination, and enlarged lateral ventricles

Serum creatine kinase concentration and muscle biopsies can also be obtained to help determine a FMCD diagnosis. FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after an serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD.