DYT-TUBB4A

Alternate names

DYT4; Dystonia musculorum deformans 4; Hereditary whispering dysphonia; Autosomal dominant torsion dystonia-4; Whispering dysphonia

Definition

DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

Epidemiology

So far, the disease has been reported in one large Australian family.

Cause

The locus for DYT4 remains unknown.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The disease is transmitted in an autosomal dominant manner.

Onset

The age of onset varies from 13 to 37 years.

Signs and symptoms

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

NIH genetic and rare disease info

• NIH info on DYT-TUBB4A

DYT-TUBB4A is a rare disease.

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