[ML-1] Fukuyama congenital muscular dystrophy (FCMD)：revisited
FCMD, the second most common muscular dystrophy in Japan, is rarely described outside of Japan FCMD is clinically defined as CMD with myopathic face, variable central nervous system dysgenesis and eye abnormalities. It represents a severe clinical phenotype, along with some other disorders known as Walker-Warburg syndrome, Santavuori disease, comprising a spectrum of disorders caused by abnormalities in the post-translational processing of alpha-dystroglycan.
Fukuyama et al reported 15 cases with high CK among patients who had been diagnosed with cerebral palsy based on the absence of any other identifiable disease, under the diagnosis of ‘A peculiar form of congenital progressive muscular dystrophy’. Kamoshita, based on autopsy findings, speculated that the etiology was chronic meningitis. An analysis of 153 family histories of 183 patients, confirmed by family registration with some families having more than one affected child, revealed an autosomal recessive disorder and ruled out the possibility of intrauterine infection. Fukutin was identified as the causative gene for FCMD in 1998; its specific function will be described by Toda, et al.
Our long-term observations of motor abilities revealed that the clinical course can follow 3 general patterns (severe, average, mild). All patients are mentally retarded and some have seizures, and abnormal CT or MRI findings. Transient sudden exacerbations of muscle weakness associated with viral infections, hypoglycemic episodes, and insomnia are also important complications. The report by Murakami of FCMD manifesting only cardiomyopathy with a Fukutin gene abnormality raised the possibility of treatment in the future.
Fukuyama et al reported 15 cases with high CK among patients who had been diagnosed with cerebral palsy based on the absence of any other identifiable disease, under the diagnosis of ‘A peculiar form of congenital progressive muscular dystrophy’. Kamoshita, based on autopsy findings, speculated that the etiology was chronic meningitis. An analysis of 153 family histories of 183 patients, confirmed by family registration with some families having more than one affected child, revealed an autosomal recessive disorder and ruled out the possibility of intrauterine infection. Fukutin was identified as the causative gene for FCMD in 1998; its specific function will be described by Toda, et al.
Our long-term observations of motor abilities revealed that the clinical course can follow 3 general patterns (severe, average, mild). All patients are mentally retarded and some have seizures, and abnormal CT or MRI findings. Transient sudden exacerbations of muscle weakness associated with viral infections, hypoglycemic episodes, and insomnia are also important complications. The report by Murakami of FCMD manifesting only cardiomyopathy with a Fukutin gene abnormality raised the possibility of treatment in the future.