ODCs

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2 OMIM references -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Early-onset generalized limb-onset dystonia

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TOR1A	(0.76)	DYNC1H1

Citations in the biomedical literature:

Early-onset generalized limb-onset dystonia		Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
	Synonym(s): - DYT1 - Dystonia musculorum deformans - EOTD - Early-onset generalized torsion dystonia - Early-onset primary dystonia - Early-onset torsion dystonia - Idiopathic dystonia - Idiopathic torsion dystonia - Oppenheim dystonia		Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SMALED1

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - 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: adolescence / young Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Early-onset generalized limb-onset dystonia
	Very frequent - Abnormal gait - Autosomal dominant inheritance - Autosomal recessive inheritance - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Muscle anomalies Frequent - Abnormal cry / voice / phonation disorder / nasal speech
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
(no data available)