ORPHA:273
Steinert myotonic dystrophy
Also called Myotonic dystrophy type 1, Steinert disease
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:273 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Excessive daytime somnolence
- Distal muscle weakness
- Myotonia with warm-up phenomenon
- Posterior subcapsular cataract
- Cardiac conduction abnormality
- EMG: myotonic discharges