Conditions / Nervous system
hereditary neuropathy with liability to pressure palsies
info · Nervous system
A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutati
A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12.
Signs and symptoms
- Hyporeflexia
- Hypoesthesia
- Hand muscle weakness
- Decreased motor nerve conduction velocity
- Hand paresthesia
- Froment sign
- Segmental peripheral demyelination/remyelination
- Peripheral neuropathy
- Vocal cord paralysis
- Muscle weakness
Also known as: HNPP; current pressure-sensitive neuropathy; familial recurrent polyneuropathy; heterozygous microdeletion 17p11.2p12; potato-grubbing palsy