This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Fukuyama type muscular dystrophy (FCMD) affects the muscles and brain, causing muscle damage that gets worse over time. There are mild, typical, and severe forms of FCMD. Symptoms begin at birth and include a poor suck, weak cry, and floppiness. Later symptoms include severe speech delay, intellectual disability, seizures, and visual impairment. Over time, muscle damage can lead to heart, breathing, and swallowing problems. Many people with Fukuyama type muscular dystrophy die in early adulthood due to respiratory or heart failure. Fukuyama type muscular dystrophy is caused by genetic variants in the FKTN gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.
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