Document Detail

The expanding clinical and genetic spectrum of the myotonic dystrophies.
MedLine Citation:
PMID:  11098287     Owner:  NLM     Status:  MEDLINE    
Core features of the dominantly inherited myotonic dystrophies are myotonia, muscle weakness and cataract. Classic myotonic dystrophy (Steinert's disease) has been defined as a genetic entity by the underlying CTG repeat expansion on chromosome 19q13.3 (= DM1 locus). Later on, another disorder similar to but different from myotonic dystrophy was described as proximal myotonic myopathy (PROMM). The majority of PROMM families have been linked to a recently discovered locus on chromosome 3q21 (= DM2 locus).--This article analyses the clinical features of 70 patients from 14 German PROMM families linked to the 3q locus. In contrast to Steinert's disease, these patients did not reveal mental deficiency; no congenital type was found; weakness was mainly located in the proximal leg muscles; clinical myotonia was very mild and sometimes absent; episodes of pain occurred. In the majority of patients, the disorder seems to be more benign compared to Steinert's disease. However, life threatening cardiac involvement is possible; rarely, muscle weakness may progress until the patient is bedridden.--Some families with a PROMM-like phenotype do not link to the locus on 3q. The group of the myotonic dystrophies will get new members in the future.
K Ricker
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta neurologica Belgica     Volume:  100     ISSN:  0300-9009     ISO Abbreviation:  Acta Neurol Belg     Publication Date:  2000 Sep 
Date Detail:
Created Date:  2001-03-06     Completed Date:  2001-05-31     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0247035     Medline TA:  Acta Neurol Belg     Country:  BELGIUM    
Other Details:
Languages:  eng     Pagination:  151-5     Citation Subset:  IM    
Department of Neurology, University of Würzburg, Germany.
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MeSH Terms
Cataract / etiology,  physiopathology
Germany / epidemiology
Linkage (Genetics) / genetics
Middle Aged
Muscle Weakness / etiology,  physiopathology*
Myotonia / etiology,  physiopathology
Myotonic Disorders / complications,  genetics,  physiopathology*
Myotonic Dystrophy / diagnosis,  genetics,  physiopathology

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