X-linked dystonia-parkinsonism
- Synonyms
- DYT-TAF1; Dystonia 3, torsion, X-linked; Lubag; Torsion dystonia-Parkinsonism, Filipino type; X-Linked Dystonia-Parkinsonism Syndrome; X-Linked Torsion Dystonia-Parkinsonism syndrome
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Virgilio Gerald H Evidente
- view full author information
Available tests
28 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (28 available)
Clinical features
Help- Abnormality of the nervous system
- Chorea
Chorea
- MedGen UID: 3420
- Concept ID: C0008489
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication
- MedGen UID: 375989
- Concept ID: C1846868
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Torsion dystonia
Torsion dystonia
- MedGen UID: 3941
- Concept ID: C0013423
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Chorea
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