The myotonic dystrophies: diagnosis and management

@article{Turner2010TheMD,
  title={The myotonic dystrophies: diagnosis and management},
  author={Chris Turner and David Hilton‐Jones},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  year={2010},
  volume={81},
  pages={358 - 367}
}
There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as ‘Steinert’s disease'; and (2) myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy. DM1 and DM2 are progressive multisystem genetic disorders with several clinical and genetic features in common. DM1 is the most common form of adult onset muscular dystrophy whereas DM2 tends to have a milder phenotype with later onset of symptoms and is… Expand

Paper Mentions

News Article
The Myotonic Dystrophies
TLDR
This chapter focuses on the genetics and clinical features of DM1 and 2, and briefly discusses the recent advances in the understanding of the molecular pathogenesis of these diseases and their management. Expand
Myotonic dystrophy: diagnosis, management and new therapies.
TLDR
Molecular therapeutics for myotonic dystrophy will probably bridge the translational gap between bench and bedside in the near future and probably improve morbidity and mortality for patients. Expand
Molecular Diagnosis of Myotonic Dystrophy
TLDR
The clinical phenotypes, genetic mutations causing the diseases, and the molecular diagnostic approaches and tools that are used to determine repeat sizes in DM1/2 are reviewed and discussed. Expand
The Myotonic Dystrophies
TLDR
Age of onset correlates with repeat size in DM1 with anticipation, onset and severity do not correlate well with the repeat expansion size inDM2, but the non-dystrophic myotonic disorders produce myotonia without muscle weakness. Expand
Rare case of dystrophia myotonica with mega cisterna magna.
TLDR
A rare case of type 1 dystrophia myotonica in combination with mega cisterna magna is reported and is thought to be an anatomic variant with no clinical significance. Expand
The Myotonic Dystrophies
TLDR
This chapter discusses the clinical and laboratory findings of DM1 and DM2 and their subtypes including the pathophysiology, emerging genetic findings, and treatment. Expand
Phenotypic variability and molecular genetics in proximal myotonic myopathy
TLDR
In this study of Greek DM2 patients, proximal weakness was the most common initial symptom, and a high index of suspicion must be maintained to make a timely diagnosis, especially in those of reproductive age. Expand
Myotonic Dystrophy Type 1 Management and Therapeutics
TLDR
There is an increasing international consensus on monitoring and treatment options for patients with myotonic dystrophy, which necessitates a multidisciplinary team to provide comprehensive, coordinated clinical care. Expand
Cardiomyopathy secondary to Steinert's dystrophy
TLDR
Etiological, pathophysiological and clinical aspects of MD1 with emphasis on cardiovascular manifestations are discussed, and a case of a 28 years old male patient admitted with congestive heart failure related to MD1 is related. Expand
[Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series].
TLDR
Five patients with congenital myotonic dystrophy are presented in order to describe clinical manifestations, diagnosis, treatment and prognosis, and significant chronic psychomotor limitations are found. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 126 REFERENCES
Clinical and molecular aspects of the myotonic dystrophies: A review
TLDR
Clinical similarities and differences between DM1 and DM2 are emphasized, current views about the molecular basis of these disorders are examined, and they are contrasted with other repeat expansion disorders that have increasingly been recognized as a cause of neurological disease. Expand
RNA pathogenesis of the myotonic dystrophies
TLDR
Although other mechanisms may underlie the differences between DM1 and DM2, the pathogenic effects of the RNA mechanism are now clear, which will facilitate development of appropriate treatments. Expand
Multiple pilomatrixomata and myotonic dystrophy: a familial association.
TLDR
No other patient has had such a large number of histologically proven pilomatrixomata, and the 25th case of a patient with both conditions together with a review of the literature is described. Expand
Myotonic dystrophy: RNA pathogenesis comes into focus.
  • L. Ranum, J. Day
  • Biology, Medicine
  • American journal of human genetics
  • 2004
TLDR
The recent discovery that myotonic dystrophy type 2 (DM2) is caused by an untranslated CCTG expansion, along with other discoveries on DM1 pathogenesis, indicate that the clinical features common to both diseases are caused by a gain-of-function RNA mechanism in which the CUG and CCUG repeats alter cellular function, including alternative splicing of various genes. Expand
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
TLDR
DM2 is caused by a CCTG expansion located in intron 1 of the zinc finger protein 9 (ZNF9) gene, indicating that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2. Expand
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
TLDR
Whether PROMM, PDM, and DM2 represent different phenotypic expressions of a disease caused by the same mutation or if they are allelic disorders remains to be determined. Expand
A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies
TLDR
The absence of trinucleotide repeat expansion in the DM gene is consistent with this family being affected by a disorder distinct from DM, possibly a form of PROMM. Expand
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
TLDR
The phenotype and the histological features in muscle and brain of the first large pedigree with a non-myotonic dystrophy type 1 (DM1) non-DM2 multisystem myotonic disorder associated with severe frontotemporal dementia provides further evidence of the clinical and genetic heterogeneity of the myOTonic dystrophies. Expand
[Cardiac involvement in Steinert's myotonic dystrophy].
TLDR
It is recommended that patients with DM1 undergo 24-h electrocardiogram monitoring and echocardiography at least yearly and that the severity of cardiac abnormalities is not correlated to the degree of neurological deficit. Expand
Genotype-phenotype correlation in myotonic dystrophy.
TLDR
A small group of patients with myotonic dystrophy were examined for the unstable trinucleotide repeat and both expansion and contraction of the enlarged fragment during transmission from one generation to the next were observed. Expand
...
1
2
3
4
5
...