Dystonia - isolated/combined

Gene: ADCY5

Green List (high evidence)

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.

Created: 9 Dec 2021, 9:48 p.m. | Last Modified: 9 Dec 2021, 9:48 p.m.

Panel Version: 1.12

Familial dyskinesia with facial myokymia is an autosomal dominant movement disorder characterized by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles.

Multiple families reported.

Note one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.

Created: 28 Apr 2021, 11:09 p.m. | Last Modified: 28 Apr 2021, 11:09 p.m.

Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651

Publications

• 22782511
• 24700542
• 33051786
• 32647899
• 33704598
• 34631954
• 28971144
• 30975617