Abstract
Congenital muscular dystrophies (CMD) are autosomal recessive neuromuscular disorders of early onset with a wide clinical presentation. Patients with CMD present with hypotonia soon after birth (days) or in the first year of life, multiple joint contractures, and severely delayed motor development. Only a few patients achieve the ability to walk, albeit temporarily and with difficulty. In addition, some patients are mentally retarded with developmental defects of the CNS and major eye problems. A common feature of all CMDs is fibrous and fatty replacement of contractile elements in muscle. Motor development is poor. The CMDs have been recognized for more than a century. The first clear description was by Batten1 in 1903. His article, published in 1904, depicts a sad-looking boy aged 7 to 8 years with marked joint contractures. CMDs with brain involvement were later recognized. In 1960 in Japan, Fukuyama et al.2 described 15 patients with a peculiar form of CMD associated with major abnormalities of the CNS. We now refer to this …
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