Hereditary neuropathy with liability to pressure palsy
| Hereditary neuropathy with liability to pressure palsy | |
|---|---|
| Other names | Tomaculous neuropathy |
| Nerve with myelin sheath | |
| Specialty | Neurology |
| Causes | Genetic (autosomal dominant PMP22 deletion) |
| Diagnostic method | Family history, Electrophysiologic testing |
| Treatment | Occupational therapist, ankle/wrist supports |
Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition that affects the nerves. Pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months.
HNPP is caused by a mutation in the gene PMP22, which makes peripheral myelin protein 22. This protein has a role in the maintenance of the myelin sheath that insulates nerves, resulting in insufficient conductivity in the nerves. HNPP is part of the group of hereditary motor and sensory neuropathy (HMSN) disorders and is linked to Charcot–Marie–Tooth disease (CMT).