Myotonic Dystrophy 1; Dm1

Description

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

Clinical Features

Top most frequent phenotypes and symptoms related to Myotonic Dystrophy 1; Dm1

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Delayed speech and language development

And another 59 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Myotonic Dystrophy 1; Dm1 Is also known as dystrophia myotonica 1, dystrophia myotonica, steinert disease, dm.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Myotonic Dystrophy 1; Dm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myotonic Dystrophy Type 1 Repeat Expansion Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DMPK
Specificity
100 %
Genes
100 %
Myotonic Dystrophy Type 1 Repeat Expansion Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

DMPK
Specificity
100 %
Genes
100 %
DMPK DNA Test (DM1).

By Athena Diagnostics Inc (United States).

DMPK
Specificity
100 %
Genes
100 %
Early Onset Myotonia Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CLCN1, DMPK
Specificity
34 %
Genes
100 %
Myotonic Syndrome Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1
Specificity
15 %
Genes
100 %
Myotonic dystrophy.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

DMPK
Specificity
100 %
Genes
100 %
Myotonic Dystrophy Type 1.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

DMPK
Specificity
100 %
Genes
100 %
Myotonic dystrophy type 1.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

DMPK
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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