steinert's disease
Noun: A severe, inherited form of muscular dystrophy characterized by progressive muscle weakness and wasting (atrophy), particularly affecting the muscles of the face, hands, feet, and neck. Key symptoms include difficulty with speech and hand coordination, with weakness typically spreading to the limbs and hips. Onset can occur from birth to middle age, and the disease progresses slowly. Its inheritance pattern is autosomal dominant.
This term is used specifically in medical contexts to refer to this distinct neuromuscular disorder. * The patient was diagnosed with Steinert's disease after presenting with characteristic muscle weakness and a family history of the condition. * Research into Steinert's disease focuses on understanding the genetic mutation that causes it.
- The term is often used interchangeably with myotonic dystrophy type 1, which is its more precise clinical and genetic designation. "Steinert's disease" is an eponym, named after the German physician Hans Steinert.
- Myotonic dystrophy (type 1): The standard medical term for Steinert's disease.
- Myotonic Muscular Dystrophy: A broader category that includes Steinert's disease (type 1) and the rarer type 2 (PROMM).
- DM1: A common abbreviation for myotonic dystrophy type 1 (Steinert's disease).
- Myotonic dystrophy type 1
- Dystrophia myotonica (an older term)
This term refers exclusively to the medical condition described. It is not used in general language and has no other meanings.
- 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