Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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December 12, 2011
Fukuyama Congenital Muscular Dystrophy
- Heterogeneous group of inherited disorders characterized by myopathy and hypotonia at birth. Many different subtypes, of which the major distinction is CMD with CNS abnormalities and those without CNS involvement.
- Rarely occurs outside the Japanese population.
- Autosomal recessive inheritance; gene locus identified on chromosome 9.
- The disease onset typically occurs in early infancy. Initial symptoms may include a poor suck, weak cry, floppiness, symmetrical generalised muscle weakness and hypotonia. Facial myopathy may also be seen and increases with age. Developmental and speech delay occur in all individual with FCMD. Other symptoms include seizures, clinical features related to cardiomyopathy, and cardiac failure. Survival beyond 20 years is uncommon, and death usually occurs following respiratory complications.
- The diagnosis of FCMD is usually established by clinical features, characteristic findings on neuroimaging, and serum CK concentration. Molecular genetic testing, when available, is usually performed to confirm the diagnosis.
- Key Diagnostic Features: Type II lissencephaly, cerebellar polymicrogyria with accompanying cysts, and mild ventricular dilatation. Uncommonly, agenesis of septum pellucidum can be seen.
- DDx: Walker-Warburg syndrome, muscle-eye-brain disease
- Rx: Supportive therapy
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