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Early-onset generalized limb-onset dystonia

2 OMIM references -
1 associated gene
29 connected diseases
7 signs/symptoms

Disease	Type of connection
Myoclonus-dystonia syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Smith-Lemli-Opitz syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, KÃ¶bberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Parkinsonian-pyramidal syndrome
Progeria-associated arthropathy
Young adult-onset Parkinsonism

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

Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		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		External references: 2 OMIM references - No MeSH references

Gene symbol	UniProt reference	OMIM reference
TOR1A	O14656	605204

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