Hagemoser-Weinstein-Bresnick Syndrome

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Classification according to ICD-10
G60.0 Hereditary sensorimotor neuropathy
H47.2 Optic atrophy
H90.3 Bilateral hearing loss due to sensorineural disturbance
ICD-10 online (WHO version 2019)

The Hagemoser-Weinstein Bresnick syndrome is a very rare, to the dominant Autosomal atrophies (ADOA) associated congenital disease with a combination of progressive hearing loss , polyneuropathy as in Charcot-Marie-Tooth disease and optic atrophy .

Synonyms are: optic atrophy - polyneuropathy - deafness - myopathy; DOA +; ADOA plus

The name refers to the first authors of the first description from 1989 by the American human geneticists Kristal Hagemoser, Joel Weinstein, Geeorge Bresnick and colleagues.

distribution

The frequency is given as 1–9 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease are mutations in OPA1 - gene in chromosome 3 locus q29 based on that for a like dynamin GTPase coded.

Clinical manifestations

Clinical criteria are:

Furthermore, one can ophthalmoplegia progressiva externa , a myopathy , ataxia and polyneuropathy develop.

diagnosis

Since the ophthalmological finding is unspecific, the diagnosis is based on genetic mutation detection and / or measurement of enzyme activity in a muscle biopsy .

Differential diagnosis

A possibly autosomal - recessive form ( Iwashita syndrome ) was founded in 1970 by H. Iwashita and co-workers.

The combination of optic atrophy, hearing loss, and peripheral neuropathy is also found in Rosenberg-Chutorian syndrome .

Other hereditary optic neuropathies such as Charcot-Marie-Tooth type II disease , Leber's optic atrophy and DIDMOAD syndrome must be distinguished from the differential diagnosis .

Individual evidence

  1. ↑ a b c d e Optic atrophy plus syndrome, autosomal dominant. In: Orphanet (Rare Disease Database).
  2. ↑ K. Hagemoser, J. Weinstein, G. Bresnick, R. Nellis, S. Kirkpatrick, RM Pauli: Optic atrophy, hearing loss, and peripheral neuropathy. In: American journal of medical genetics. Vol. 33, No. 1, May 1989, pp. 61-65, doi: 10.1002 / ajmg.1320330108 , PMID 2665489 (review).
  3. ↑ OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ H. Iwashita, N. Inoue, S. Araki, Y. Kuroiwa: Optic atrophy, neural deafness, and distal neurogenic amyotrophy; report of a family with two affected siblings. In: Archives of neurology. Vol. 22, No. 4, April 1970, pp. 357-364, PMID 5417642 .
  5. ^ Charcot-Marie-Tooth disease, X-linked. In: Orphanet (Rare Disease Database).

Web links