myotonia atrophica
Noun: A severe, progressive neuromuscular disorder characterized by myotonia (delayed muscle relaxation after contraction) combined with muscle atrophy (wasting) and weakness. It is a specific form of muscular dystrophy with multi-system involvement.
This is a highly specific medical term used in clinical, genetic, and academic contexts to refer to a particular inherited disease. It is not used in everyday conversation. * The diagnosis was confirmed as myotonia atrophica after genetic testing. * Research into myotonia atrophica focuses on managing its cardiac and muscular symptoms.
The term is often used interchangeably with its more modern clinical name, myotonic dystrophy type 1 (DM1). In detailed medical discourse, it is distinguished from other forms of muscular dystrophy and myotonic disorders. * The patient's presentation, featuring cataracts and frontal balding, is classic for myotonia atrophica.
- Myotonic dystrophy (DM): The broader category of the disease, with myotonia atrophica specifically referring to type 1 (DM1).
- Steinert's disease: An eponymous name for the same condition.
- Dystrophia myotonica: An alternative medical term.
- Myotonic dystrophy type 1 (DM1)
- Steinert's disease
This term has only one meaning: it refers exclusively to the specific genetic disorder described. It is not used figuratively.
- Formality: This is a formal, technical term.
- Context: Its use is almost entirely restricted to medical, genetic counseling, and scientific research contexts.
- Modern Preference: In contemporary medical practice, "myotonic dystrophy type 1" is often preferred for precision.
- 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