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Benign congenital hypotonia

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Benign congenital hypotonia is a very rare condition which may be inherited in an autosomal dominant fashion.

Presentation is often as a non-progressive limb girdle weakness that initially delays gross motor development then improves in later childhood. In severe cases presentation is with a floppy baby. There are no fasciculations.

Diagnosis is made on muscle biopsy. EMG and CPK are normal.

Other causes of a floppy baby must be excluded.

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