Synonym(s): - DM1 - MD1 - Myotonic dystrophy type 1 - Steinert disease
Classification (Orphanet): - Rare cardiac disease - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare infertility - Rare neurologic disease Entire classification		Classification (ICD10): - Diseases of the nervous system - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: C538008
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DMPK	Q09013	605377

- Abnormal EMG / electromyogram / electropmyography
- Autosomal dominant inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Expressionless face / amimia
- Hypertonia / spasticity / rigidity / stiffness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myotonia

- Anomalies of the endocrine glands
- Cataract / lens opacification
- Congenital cardiac anomaly / malformation / cardiopathy
- Facial palsy
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia

- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hydrocephaly
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Inguinal / inguinoscrotal / crural hernia
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes