Hereditary neuralgic amyotrophy

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Classification according to ICD-10
G54.5 Neuralgic amyotrophy
ICD-10 online (WHO version 2019)

The Hereditary neuralgic amyotrophy (HNA) is a very rare congenital form of neuralgic amyotrophy , a rare disease of the peripheral nerves with violent pain and muscle weakness to muscle atrophy in the upper extremities and slow recovery for months to years.

Synonyms are: English Hereditary Brachial Plexus Neuropathy; Neuritis with Brachial Predilection

The first description comes from 1960 by RA Taylor.

distribution

The frequency is given as 1 - 5 in 10,000, inheritance is autosomal dominant . Men are 7 times more likely to be affected.

root cause

The disease be half mutations in SEPT9 - gene on chromosome 17 locus q25.3 basis.

Clinical manifestations

Clinical criteria are:

  • sudden, violent pain in shoulder and upper arm
  • Muscle weakness to muscular atrophy of the shoulder muscles
  • permanent pain in the musculoskeletal system in 2 out of 3 sufferers
  • Hypotelorism , oblique cleft eyelids, epicanthus , cleft palate .
  • in the course of either incomplete resolution with residual neurological symptoms or normalization with relapses in 75%

diagnosis

The diagnosis can be made in human genetics through the detection of mutations.

therapy

Treatment is as described in Therapy and Prognosis .

literature

  • K. Neubauer, D. Boeckelmann, U. Koehler, J. Kracht, J. Kirschner, M. Pendziwiat, B. Zieger: Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study. In: Cytoskeleton. [Electronic publication before printing] July 2018, doi: 10.1002 / cm.21479 , PMID 30019529 .
  • R. Chuk, M. Sheppard, G. Wallace, D. Coman: Pediatric Hereditary Neuralgic Amyotrophy: Successful Treatment With Intravenous Immunoglobulin and Insights Into Pathogenesis. In: Child neurology open. Volume 3, 2016 Jan-Dec, p. 2329048X16668970, doi: 10.1177 / 2329048X16668970 , PMID 28503616 , PMC 5417342 (free full text).
  • J. Meuleman, V. Timmerman, C. Van Broeckhoven, P. De Jonghe: Hereditary neuralgic amyotrophy. In: Neurogenetics. Volume 3, Number 3, July 2001, pp. 115-118, PMID 11523561 (review).

Individual evidence

  1. ↑ a b c d Neuralgic amyotrophy. In: Orphanet (Rare Disease Database).
  2. ^ Gene Reviews
  3. ^ RA Taylor: Heredofamilial mononeuritis multiplex with brachial predilection. In: Brain: a journal of neurology. Volume 83, March 1960, pp. 113-137, PMID 13837190 .
  4. ↑ Amyotrophy, hereditary neuralgic.  In: Online Mendelian Inheritance in Man . (English)

Web links