Distal myopathy 2
| Classification according to ICD-10 | |
|---|---|
| G71.0 | Muscular dystrophy |
| ICD-10 online (WHO version 2019) | |
Distal myopathy 2 (MPD2) , also called vocal cord and pharyngeal weakness with distal myopathy (VCPDM) , is a very rare, hereditary muscle disease belonging to the group of distal muscular dystrophies . The English term Vocal cord and pharyngeal weakness with distal myopathy is also a good description of the main symptoms. The disease is characterized by muscle weakness and muscle atrophy of the distal extremity muscles (" distal myopathy") accompanied by weakness of the vocal cord and pharyngeal muscles ("vocal cord and pharyngeal weakness").
root cause
The disease is caused by a “missense” mutation in the Matrin-3 gene (MATR3). This is supported by the detection of two identical mutations in the MATR gene in two families affected by the disease in 2009. The disease is autosomal - dominant inherited. In humans, the gene is located on the long arm of chromosome 5 (5q31.2). The gene product Matrin-3 occurs in the matrix of cell nuclei. The exact function is still unclear.
Clinical picture
The onset of the disease is between the ages of 35 and 60. VCPDM typically begins with weakness in the extensor muscles of the foot and toes or fingers. The musculature can be affected differently, ie asymmetrically, in a side comparison. Later on, the vocal cords and throat muscles become involved, resulting in dysphonia and dysphagia .
diagnosis
The creatine kinase in serum may be normal or up to eight times higher. A slight increase in nerve conduction velocity can be demonstrated using electroneurography . In the electromyography to show myopathic changes. The muscle biopsy shows general changes in dystrophic myopathy with so-called rimmed vacuoles . Overall, the changes are unspecific, so that only molecular genetic diagnostics can confirm the diagnosis.
Individual evidence
- ↑ a b Distal myopathy 2. In: Online Mendelian Inheritance in Man . (English), last accessed on September 2, 2011.
- ↑ a b c d Bjarne Udd: Distal muscular dystrophies . In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 254.
further reading
- J. Lapresle, M. Fardeau, J. Godet-Guillain: Myopathie distale et congénitale, avec hypertrophie des mollets: Présence d'anomalies mitochondriales à la biopsy musculaire . In: Journal of the Neurological Sciences . tape 17 , no. 1 . Elsevier , 1972, p. 87-102 (French).
- H. Feit, A. Silbergleit et al. a .: Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. In: American Journal of Human Genetics . Volume 63, Number 6, December 1998, pp. 1732-1742, ISSN 0002-9297 . doi: 10.1086 / 302166 . PMID 9837826 . PMC 137764 (free full text).
- SM Garvey, J. Senderek et al. a .: Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). In: Annals of Human Genetics. Volume 70, Pt 3 May 2006, pp. 414-416, ISSN 0003-4800 . doi: 10.1111 / j.1529-8817.2005.00252.x . PMID 16674563 .
- J. Senderek, SM Garvey et al. a .: Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. In: American Journal of Human Genetics . Volume 84, Number 4, April 2009, pp. 511-518, ISSN 1537-6605 . doi: 10.1016 / j.ajhg.2009.03.006 . PMID 19344878 . PMC 266797 (free full text).
