FUKUYAMA
CONGENITAL MUSCULAR DYSTROPHY |
ALTERNATE NAMES
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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
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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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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Drooping eyelids and slack mouth;
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Difficulty or inability to stand or walk.
ICD-9: 359.0
ICD-10:
G71.0
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical examination including a description of physical findings;
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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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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets |
110.08 B
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111.13
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111.17
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Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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