Hereditary neuropathy with liability to pressure palsy – epidemiology and diagnosis

• Main Authors: Dominik Siutka, Katarzyna Bonek, Małgorzata Fudala, Waldemar Brola
• Format: Article
• Language: English
• Published: Medical Communications Sp. z o.o. 2018-12-01
• Series: Aktualności Neurologiczne
• Subjects: hereditary neuropathy with liability to pressure palsy; peripheral nervous system; tomaculus; electrophysiological studies
• Online Access: http://www.neurologia.com.pl/index.php/issues/2018-vol-18-no-4/hereditary-neuropathy-with-liability-to-pressure-palsy-epidemiology-and-diagnosis?aid=1020

The aim of the work is to present current knowledge on epidemiology, causes, symptomatology and diagnosis of hereditary neuropathy with liability to pressure palsy. This neuropathy usually manifests itself in the 2nd and 3rd decade of life, but also can occur at any age. Its genetic basis is the deletion or, less frequently, a point mutation of the PMP22 gene in chromosome 17p11. Symptoms appear after a small extension or compression of a nerve. In the recent years, special attention has been paid to its occurrence in the course of intense physical exercises. The most common clinical syndromes occurring in the course of the disease are paresis and sensory disturbances in the area of the median, ulnar, radial and peroneal nerves as well as brachial plexus palsy. Presence of structures called tomaculas in a nerve biopsy is characteristic for the disease. Electrophysiological and genetic studies play a key role in diagnostics. In the light of the recent studies, the frequency of occurrence of hereditary neuropathy with liability to pressure palsy seems to be significantly underestimated and ranges from 0.84 to 58.9 per 100,000. Hereditary neuropathy with liability to pressure palsies should be differentiated from compression syndromes, hereditary motor and sensory neuropathy (HMSN IA), multifocal axonal neuropathy and familial brachial plexus palsy. After recognising the syndrome, it is important to properly rehabilitate and avoid situations where there may be compression on peripheral nerves. In addition, the paper presents a case of genetically confirmed familial neuropathy with hypersensitivity to pressure in a 24-year-old male patient with a negative family history.