Hereditary neuropathy with liability to pressure palsy: a brief review with a case report.

[neuralgic amyotrophy]

Hereditary Neuropathy with Liability to Pressure Palsy (HNPP ) is an autosomal dominant disorder and is usually characterized by episodes of recurrent and painless focal motor and sensory peripheral mononeuropathy . This condition is usually localized around areas of entrapment (predominantly the wrists , knees , elbows , and shoulders ). The genetic locus of the disease is chromosome 17 p 12 . A deletion of the PMP 22 gene results in the lack of peripheral myelin protein , a key component to the myelin sheet of peripheral nerves . However , this disease may be completely asymptomatic until an event , such as a minor trauma , triggers these episodes , as seen in our presented case report . The diagnosis of HNPP can be somewhat challenging , as other diseases , such as Charcot-Marie -Tooth disease type 1 A (CMT ) and Hereditary Neuralgic Amyotrophy (HNA ) must be included in the differential diagnosis due to their overlapping clinical features . There are currently no treatments to cure the disease , but therapies seek to alleviate the symptoms and recurring episodes .

Diseases
Validation

Diseases presenting "neuropathy" symptom

adrenomyeloneuropathy

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

focal myositis

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

krabbe disease

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neuralgic amyotrophy

oculocutaneous albinism

pendred syndrome

phenylketonuria

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated