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Dystonia 1, torsion, late-onset

MedGen UID:
865357
•Concept ID:
C4016920
•
Finding
Synonym: DYSTONIA 1, TORSION, LATE-ONSET
 
OMIM®: 605204

Recent clinical studies

Etiology

Onset and progression of primary torsion dystonia in sporadic and familial cases.
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160

Diagnosis

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.
Parisi F, Corniani G, Bonato P, Balkwill D, Acuna P, Go C, Sharma N, Stephen CD
Sci Rep 2024 Jun 9;14(1):13229. doi: 10.1038/s41598-024-63946-4. PMID: 38853162Free PMC Article
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A, Goldberg Y, Lev D, Basel-Salmon L, Shor O, Benninger F
Sci Rep 2022 Jan 7;12(1):58. doi: 10.1038/s41598-021-04337-x. PMID: 34997144Free PMC Article
Onset and progression of primary torsion dystonia in sporadic and familial cases.
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160

Therapy

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.
Parisi F, Corniani G, Bonato P, Balkwill D, Acuna P, Go C, Sharma N, Stephen CD
Sci Rep 2024 Jun 9;14(1):13229. doi: 10.1038/s41598-024-63946-4. PMID: 38853162Free PMC Article

Prognosis

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A, Goldberg Y, Lev D, Basel-Salmon L, Shor O, Benninger F
Sci Rep 2022 Jan 7;12(1):58. doi: 10.1038/s41598-021-04337-x. PMID: 34997144Free PMC Article
Onset and progression of primary torsion dystonia in sporadic and familial cases.
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160

Clinical prediction guides

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.
Parisi F, Corniani G, Bonato P, Balkwill D, Acuna P, Go C, Sharma N, Stephen CD
Sci Rep 2024 Jun 9;14(1):13229. doi: 10.1038/s41598-024-63946-4. PMID: 38853162Free PMC Article
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A, Goldberg Y, Lev D, Basel-Salmon L, Shor O, Benninger F
Sci Rep 2022 Jan 7;12(1):58. doi: 10.1038/s41598-021-04337-x. PMID: 34997144Free PMC Article
Onset and progression of primary torsion dystonia in sporadic and familial cases.
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160

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