DYT-TUBB4A
Alternate names[edit | edit source]
DYT4; Dystonia musculorum deformans 4; Hereditary whispering dysphonia; Autosomal dominant torsion dystonia-4; Whispering dysphonia
Definition[edit | edit source]
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
Epidemiology[edit | edit source]
So far, the disease has been reported in one large Australian family.
Cause[edit | edit source]
The locus for DYT4 remains unknown.
Inheritance[edit | edit source]
The disease is transmitted in an autosomal dominant manner.
Onset[edit | edit source]
The age of onset varies from 13 to 37 years.
Signs and symptoms[edit | edit source]
Some patients develop generalized dystonia and psychiatric symptoms.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Generalized dystonia
- Laryngeal dystonia
30%-79% of people have these symptoms
- Eunuchoid habitus
- Gait disturbance(Abnormal gait)
- Movement abnormality of the tongue
- Open mouth(Gaped jawed appearance)
- Sunken cheeks(Depressed cheeks)
- Torticollis(Wry neck)
5%-29% of people have these symptoms
- [[Blepharospasm](Eyelid spasm)
- Dementia(Dementia, progressive)
- Dysdiadochokinesis(Difficulty performing quick and alternating movements)
- Dysphagia(Poor swallowing)
- Kyphoscoliosis
- Respiratory distress(Breathing difficulties)
- Upper limb postural tremor
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
DYT-TUBB4A is a rare disease.
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