Microcephaly-complex motor and sensory axonal neuropathy syndrome

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Microcephaly-complex motor and sensory axonal neuropathy syndrome

Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe rapidly-progressing distal symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development hypotonia absent or reduced deep tendon reflexes progressive muscle wasting and weakness and scoliosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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