Conditions / Nervous system
hereditary sensory and autonomic neuropathy type 2A
info · Nervous system
A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.
Signs and symptoms
- Hyporeflexia
- Anhidrosis
- Episodic hyperhidrosis
- Painless fractures due to injury
- Hypotonia
- Areflexia
- Gastroesophageal reflux
- Generalized hypotonia
- Decreased number of peripheral myelinated nerve fibers
- Osteolytic defects of the phalanges of the hand
Also known as: HSAN2A; hereditary sensory and autonomic neuropathy type IIA