Cerebromuscular dystrophy, Fukuyama type; FCMD; Fukuyama CMD; Fukuyama muscular dystrophy; Fukuyama Syndrome; Fukuyama type congenital muscular dystrophy; Muscular dystrophy congenital, Fukuyama type; Muscular dystrophy congenital progressive, with intellectual disability; Muscular dystrophy congenital, with central nervous system involvement; Polymicrogyria with muscular dystrophy

Fukuyama Congenital Muscular Dystrophy (FCMD) is an inherited condition that predominantly affects the muscles, brain, and eyes. FCMD is caused by a defect in the FKTN gene of both parents. FCMD affects the skeletal muscles, which the body uses for movement.

The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting,standing, and walking. FCMD also impairs brain development. People with this condition have a brain abnormality called cobblestone Type II Lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Other signs and symptoms of FCMD include impaired vision, eye abnormalities and slowly progressive heart problems after age 10.

Diagnostic testing: Genetic testing of the amniotic fluid, if available in the records,may be helpful in diagnosing the disorder. Lab tests showing immunostaining of muscle, muscle biopsy, serum creatine kinase concentration and brain MRI.

Physical findings: Physical symptoms include:

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  Muscle weakness;

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  Drooping eyelids and slack mouth;

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  Joint contractures; and

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  Difficulty or inability to stand or walk.

ICD-9: 359.0

Most children with FCMD are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures.

There is no cure for FCMD. Treatment is supportive and focused on improving quality of life. Such treatment can involve physical therapy with stretching exercises to promote mobility and prevent contractures, weight control to avoid obesity, and instruction in the use of mechanical assistive devices to help ambulation and mobility. Management of gastroesophageal reflux and seizures, monitoring of respiratory problems and myocardial involvement is helpful.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical examination including a description of physical findings;

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  Family history;

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  Genetic testing with confirmed mutation in the FCMD gene;

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  Neurological examination;

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  Electromyography or nerve conduction tests; and

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  Blood and enzyme tests.

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