ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
23 signs/symptoms

Proximal spinal muscular atrophy type 3

Steinert myotonic dystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMN1 SMN2	(0.63) (0.63)	DMPK DMPK

Citations in the biomedical literature:

Proximal spinal muscular atrophy type 3		Steinert myotonic dystrophy
	Synonym(s): - Juvenile spinal muscular atrophy - Kugelberg-Welander disease - SMA type 3 - SMA-III - SMA3		Synonym(s): - DM1 - MD1 - Myotonic dystrophy type 1 - Steinert disease

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare infertility - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538008

Steinert myotonic dystrophy
	Very frequent - 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 Frequent - 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 Occasional - 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
Proximal spinal muscular atrophy type 3
(no data available)