Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers

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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

601170

Mode of Inheritance

Autosomal recessive

Description

Congenital muscular dystrophy is a heterogeneous group of disorders characterized by muscular hypotonia of prenatal onset and the histologic features of muscular dystrophy. It can also be associated with involvement of the central nervous system.

Epidemiology in the Arab World

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Other Reports

United Arab Emirates

Sztriha et al. (1999) described two female infants born to consanguineous parents in an inbred Arab family of United Arab Emirates origin with a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation, and arthrogryposis. In the first case, the female infant born at 35 weeks gestation, did not have spontaneous respiration after birth and needed mechanical ventilation for two months. Brain MRI showed  moderately reduced vermis and cerebellar hemispheres  and enlarged fourth ventricle and cisterna magna were enlarged. The second infant had multiple joint deformities and a small brain with a wide space between the erebral surface and the bones. In both cases, increased variation of fiber size was seen in the muscle biopsy; creatine kinase, however, was normal. Large areas of muscle were replaced by adipofibrous tissue. Both infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence.

 

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