1999年9月17日 · Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital.

Use to diagnose myotonic dystrophy type 1 (DM1) in symptomatic individuals. May be used to screen for DM1 for adults with a family history. Specific allele sizing estimates cannot be determined for expanded alleles with greater than 150 CTG repeats. Indicates whether a test has been approved by the New York State Department of Health.

DM1 test via molecular genetic testing is the first line of investigation for anyone suspected of having DM1. More than 50 CTG repeats in the 3’ untranslated region of the DMPK gene on chromosome 19 are considered to have DM1.

2024年4月11日 · Myotonic dystrophy type 1 (DM1, MIM 160900) is a multisystem disorder characterized by progressive muscle weakness, myotonia, intellectual impairment, cataracts, cardiac arrhythmias, respiratory insufficiency, hypogonadism, and endocrine disturbances. 3 DM1 generally causes distal muscle weakness that is progressive. Because of the wide range ...

Flow diagram of a genetic test on myotonic dystrophy type 1 (DM1). A two-step procedure is used in DM1 genetic testing. The first step is PCR followed by fragment length analysis, which identifies and sizes alleles within normal range.

Myotonic dystrophy type 1 (DM1) is an inherited genetic disorder caused by an expanded number of CTG repeats in the DMPK gene. Disease onset and severity are variable, ranging from mild adult onset to prenatal/congenital onset.

DMPK DNA Test (DM1) - Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene.

Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy causing progressive muscle loss and weakness. Although clinical features can manifest at any age, it is the most common form of muscular dystrophy with onset in adulthood. DM1 is an autosomal dominant condition, resulting from an unstab …

Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene. * Reference ranges may change over time. Please refer to the original patient report when evaluating results. Collect specimen in sufficient lavender top tubes. Send intact whole blood specimen at room temperature. Test sent to Athena Diagnostics.

Our second animation “Understanding Myotonic Dystrophy – Inheritance of Myotonic Dystrophy Type 1 (DM1)”, explains how DM1 is passed down from generation to generation and highlights the importance of genetic testing.