Fukuyama congenital muscular dystrophy (FCMD) is a type of muscular dystrophy, a group of more than 30 genetic conditions characterized by muscle weakness and atrophy. Congenital muscular dystrophy means that the symptoms are present at birth.
FCMD is found almost exclusively in Japan, where it is the most common form of muscular dystrophy after Duchenne muscular dystrophy, affecting from two to four infants per 100,000 births.
How FCMD affects the body
Infants born with FCMD exhibit weak crying, weak suckling, and weak muscle tone (also called hypotonia). The facial muscles also may be weak and result in droopy eyelids and open mouth. Children with FCMD often have delayed milestones like sitting up, standing, and walking.
FCMD can also impair brain development – children may have significantly delayed development of speech and motor skills, as well as intellectual disabilities that can be severe. Most children with FCMD are never able to stand or walk, though some can sit up unaided. Many children with this disease also experience seizures.
Finally, FCMD can cause impaired vision, eye abnormalities, and progressive heart conditions after age 10.
What causes FCMD
FCMD is caused by mutations in a gene called FKTN, which generates instructions for a protein called fukutin. This protein is involved in maintaining the structure of muscle. Mutations in the FKTN gene mean that muscles cannot develop properly.
How is FCMD diagnosed?
The diagnosis of FCMD is based on a physical examination and medical history to rule out other disorders. The physician may perform blood tests to measure the levels of creatine kinase, which are elevated in case of muscle damage. Blood also can be used to perform genetic tests to check for mutations in the FKTN gene.
Electromyography (EMG) tests can be used to determine whether problems are occurring in the muscle, the nerves, or the communication between muscles and nerves, which can rule out other conditions.
Muscle biopsies, in which a needle is inserted into the muscle to take a small sample for laboratory tests, may be performed to distinguish FCMD from other neurodegenerative disorders.
How is FCMD treated?
There is currently no cure for FCMD, but there are treatments available, including physiotherapy, that can make patients more comfortable and slow the disease’s progression.
Many patients will need treatment for respiratory and cardiac complications (and some may need surgery), as well as for nutritional and gastrointestinal problems.
For patients with seizures, anticonvulsants may be prescribed to help prevent and control seizures.
Last updated: Aug. 19, 2019
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