Conditions / Genetic
myoclonic dystonia 11
info · Genetic · ICD-10: G24.1
A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
Signs and symptoms
- Decreased CSF 5-hydroxyindoleacetic acid concentration
- Limb myoclonus
- Depression
- Myoclonus
- Torticollis
- Writer's cramp
- Arm dystonia
- Agoraphobia
- Tremor
- Decreased CSF homovanillic acid concentration