Conditions / Genetic
dystonia 31
info · Genetic
A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resu
A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22.
Signs and symptoms
- Writer's cramp
- Arm dystonia
- Leg dystonia
- Gait disturbance
- Generalized dystonia
- Weak voice
- Abnormal posturing
- Parkinsonism
- Craniofacial dystonia
- Dysphagia
Also known as: DYT31; ZECH-BOESCH SYNDROME