Hereditary Neuropathies/CMT - Norweigian research

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This is an abstract from Tidsskr Nor Laegeforen. 2003 Sep

25;123(18):2585-2587.

Hereditary neuropathies. [Article in Norwegian]

Mellgren SI, Vedeler C.

Nevrologisk avdeling, Universitetssykehuset Nord-Norge, 9038 Tromso.

Background: Hereditary neuropathies constitute a heterogeneous group of

diseases that make up a significant proportion of peripheral nerve

disease cases.

Material and methods: The

paper is based on a review of recent literature, including searches on

Medline, and our own clinical and research experience.

Results: Charcot-Marie-Tooth disease, itself a heterogeneous disease, is

the most common hereditary neuropathy. Several variants of neuropathy

are associated with hereditary metabolic disorders. Diagnostic methods

include nerve conduction velocity studies and

electromyography, quantitative sensory testing, molecular genetic

diagnostic testing, and in selected cases processing of nerve biopsies

and skin biopsies for determination of epidermal nerve fibre densities.

Interpretation: A thorough family history of neuropathic symptoms and

signs, and preferably clinical and electrophysiological examination of

relatives is essential for the diagnosis of hereditary neuropathy.

Molecular genetic analysis is promising for accurate classification of

these diseases. Nerve biopsy is only helpful in selected

cases.