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The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
- Source :
-
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2012 Jul; Vol. 27 (8), pp. 1034-40. Date of Electronic Publication: 2012 Jun 26. - Publication Year :
- 2012
-
Abstract
- Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together with a systematic review of the literature, in order to define the phenotypic expression of dystonia. Profound hearing impairment in affected males develops by infancy and precedes the development of dystonia, which varies in time of onset from the first to the sixth decades, with a peak in the second and third decades. Dystonia in MTS tends to be focal, segmental, or multifocal in distribution at onset, with a predilection for the upper body, variably involving the head, neck, and upper limbs. The majority of patients have progression or generalization of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand the phenotype of both the dystonia and other neurological features of MTS and have implications for the diagnosis and management of this condition.<br /> (Copyright © 2012 Movement Disorder Society.)
- Subjects :
- Adolescent
Adult
Age of Onset
Australia
Child
Child, Preschool
Cognition Disorders etiology
Deaf-Blind Disorders psychology
Disease Progression
Dystonia psychology
Evoked Potentials, Somatosensory
Evoked Potentials, Visual
Exons
Female
Humans
Infant
Intellectual Disability etiology
Intellectual Disability psychology
Introns
Magnetic Resonance Imaging
Male
Membrane Transport Proteins genetics
Middle Aged
Mitochondrial Precursor Protein Import Complex Proteins
Mutation
Neuropsychological Tests
Optic Atrophy psychology
Pedigree
Sex Characteristics
Young Adult
Deaf-Blind Disorders genetics
Deaf-Blind Disorders physiopathology
Dystonia genetics
Dystonia physiopathology
Intellectual Disability genetics
Intellectual Disability physiopathology
Optic Atrophy genetics
Optic Atrophy physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1531-8257
- Volume :
- 27
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Movement disorders : official journal of the Movement Disorder Society
- Publication Type :
- Academic Journal
- Accession number :
- 22736418
- Full Text :
- https://doi.org/10.1002/mds.25033