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Concept
Neuropathie héréditaire avec hypersensibilité à la pression
Résumé
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).
Symptoms and symptom onset vary; some individuals are diagnosed in childhood, others in adulthood, some report minor problems, whilst others experience severe discomfort and disability. In many cases, symptoms are mild enough to go unnoticed. The time period between episodes is known to vary between individuals. HNPP has not been found to alter the lifespan, although in some cases a decline in quality of life is noticed. Some sufferers (10–15%) report various pains growing in severity with progression of the disease. The nerves most commonly affected are the peroneal nerve at the fibular head (leg and feet), the ulnar nerve at the elbow (arm) and the median nerve at the wrist (palm, thumbs and fingers), but any peripheral nerve can be affected.
Among the signs/symptoms are the following (different symptoms are caused by different nerves, such as the foot drop caused by the peroneal nerve): Other HNPP symptoms can include: Partial hearing loss and facial numbness (cranial nerves can be afflicted by HNPP), intolerable fatigue and pain, sensation loss and muscle weakness in the hands and feet. There is a wide range in the severity of these symptoms
The condition is caused by a mutation in one copy of the gene PMP22 (peripheral myelin protein 22, located at locus 17p11.
Source officielle
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