myotonic muscular dystrophy
Noun: A severe, progressive genetic disorder characterized by prolonged muscle contractions (myotonia) and progressive muscle weakness and wasting (dystrophy). It is a form of muscular dystrophy that typically affects multiple muscle groups, including those of the face, neck, hands, feet, and limbs. Symptoms often include difficulty with speech and hand coordination, with weakness spreading to other areas. Onset can occur from birth to adulthood, and progression is generally slow. Inheritance follows an autosomal dominant pattern.
The term is used in medical and clinical contexts to diagnose, describe, and discuss this specific neuromuscular condition. - The patient was diagnosed with myotonic muscular dystrophy in early adulthood. - Research into myotonic muscular dystrophy focuses on understanding its genetic mechanisms. - Management of myotonic muscular dystrophy often involves a multidisciplinary care team.
- Myotonic dystrophy: A common abbreviated form of the full term, often used interchangeably in medical literature.
- There are two main types: myotonic dystrophy type 1 (DM1) and type 2 (DM2).
- Steinert's disease: An eponym sometimes used synonymously with myotonic muscular dystrophy type 1.
- Steinert's disease is the most common adult form of muscular dystrophy.
- Myotonia (n): The symptom of delayed muscle relaxation after contraction, a hallmark of the condition.
- Myotonia can make it difficult to quickly release a grip.
- Muscular dystrophy (n): The broader category of genetic diseases involving progressive weakness and loss of muscle mass.
- DM1 / DM2 (n): Abbreviations for the two genetic subtypes (Myotonic Dystrophy type 1 and type 2).
- Myotonic dystrophy
- Steinert's disease (specifically for DM1)
- Autosomal dominant inheritance: The genetic pattern by which the condition is passed from one generation to the next.
- Because it is autosomal dominant, a child has a 50% chance of inheriting the gene if one parent is affected.
- Muscle wasting: A key symptom, also described as muscular atrophy.
- Progressive weakness: A defining characteristic of the disease's course.
- a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant