Mohr-Tranebjaerg syndrome
| Classification according to ICD-10 | |
|---|---|
| G31.8 | Other specified degenerative diseases of the nervous system |
| ICD-10 online (WHO version 2019) | |
The Mohr-Tranebjaerg syndrome is a very rare congenital neurodegenerative disease with the main features in early childhood -onset deafness , commencing in adolescence dystonia and optic atrophy with reduction of vision from early adulthood.
Synonyms are: Jensen syndrome; English Deafness-dystonia syndrome; DDS; Deafness-dystonia-optic neuronopathy syndrome, DDON syndrome; Deafness-dystonia-optic atrophy syndrome; DDP
The name refers to the first author of the first description from 1960 by J. Mohr . In 1992 L. Tranebjaerg and colleagues defined and differentiated the disease as a syndrome based on the same patients .
The other name refers to PKA Jensen and its description from 1981.
distribution
The frequency is unknown; approximately 70 patients have been reported to date. The inheritance is X-linked - recessive .
root cause
Of the disease are mutations in the TIMM8A - gene in the X-chromosome locus Q22.1 based, which for the deafness dystonia peptide 1 encodes (DDP1).
Clinical manifestations
Clinical criteria are:
- A rapidly progressive hearing loss occurring in early childhood is pathognomonic .
- In addition, personality changes , paranoia, and a mild form of intellectual disability can occur.
- A movement disorder , dystonia or ataxia develops in adolescence
- In adulthood, there is a decrease in visual acuity , photophobia , color weakness and a central scotoma with blindness in later years.
diagnosis
The diagnosis is based on the clinical findings and the course.
Differential diagnosis
The following are to be distinguished:
- MELAS syndrome
- Mitochondrial DNA Depletion Syndrome
- Arts syndrome
- X-linked spinocerebellar ataxia type 3 and 4
- McLeod neuroacanthocytosis syndrome
- Usher syndrome type 1 and 2,
- Wolfram Syndrome
- Pendred syndrome
therapy
A causal therapy is not known, the treatment is symptomatic.
literature
- L. Cif, V. Gonzalez, S. Garcia-Ptacek, S. James, J. Boetto, A. Seychelles, T. Roujeau, AM Moura De Ribeiro, M. Sillon, M. Mondain, P. Coubes: Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation. In: Movement disorders: official journal of the Movement Disorder Society. Vol. 28, No. 6, June 2013, pp. 737-738, doi: 10.1002 / mds.25519 , PMID 23801560 .
- AD Ha, KL Parratt, ND Rendtorff, M. Lodahl, K. Ng, DB Rowe, CM Sue, MW Hayes, L. Tranebjaerg, VS Fung: The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. In: Movement disorders: official journal of the Movement Disorder Society. Vol. 27, No. 8, July 2012, pp. 1034-1040, doi: 10.1002 / mds.25033 , PMID 22736418 .
- F. Bahmad, SN Merchant, JB Nadol, L. Tranebjaerg: Otopathology in Mohr-Tranebjaerg syndrome. In: The Laryngoscope. Vol. 117, No. 7, July 2007, pp. 1202-1208, doi: 10.1097 / MLG.0b013e3180581944 , PMID 17471106 , PMC 2515094 (free full text).
Individual evidence
- ↑ a b c d Mohr-Tranebjaerg syndrome. In: Orphanet (Rare Disease Database).
- ↑ J. Mohr, K. Mageroy: Sex-linked deafness of a possibly new type. In: Acta genetica et statistica medica. Vol. 10, 1960, pp. 54-62, PMID 13771732 .
- ↑ L. Tranebjaerg, C. Schwartz, K. Huggins et al .: X-linked recessive mental retardation with progressive sensorineural deafness, blindness, spastic paraplegia and dystonia. In: American Journal of Human Genetics Vol. 51 (Suppl.), 1992, p. A47
- ↑ PK Jensen: Nerve deafness: optic nerve atrophy, and dementia: a new X-linked recessive syndrome? In: American Journal of Human Genetics Vol. 9, No. 1, 1981, pp. 55-60, doi: 10.1002 / ajmg.1320090110 , PMID 7195649 .
- ^ Mohr-Tranebjaerg syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ Mitochondrial DNA Depletion Syndrome. In: Orphanet (Rare Disease Database).
- ↑ Ataxia, spinocerebellar X-linked, type 3. In: Orphanet (database for rare diseases).
- ^ Ataxia, spinocerebellar X-linked, type 4. In: Orphanet (database for rare diseases).
