Congenital axonal neuropathy with encephalopathy
A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy manifesting at birth or shortly thereafter with generalized muscular hypotonia prominently distal muscular weakness respiratory/swallowing difficulties and diffuse areflexia associated with central nervous system involvement which includes progressive microcephaly seizures and global developmental delay. Additional variable manifestations include hearing impairment ocular lesions skeletal anomalies (e.g. talipes equinovarus overriding toes scoliosis joint contractures) cryptorchidism and dysmorphic features (such as coarse facies hypertelorism high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Congenital axonal neuropathy with encephalopathy?
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