ORPHA:589821
Congenital-onset Steinert myotonic dystrophy
Also called Congenital-onset Steinert disease, Congenital-onset myotonic dystrophy type 1
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:589821 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Macrocephaly
- Facial hypotonia
- Tented upper lip vermilion
- Bradyphrenia
- Short attention span
- Neonatal hypotonia