Brain Channelopathies

Gene: ADCY5

Green List (high evidence)

Bi-allelic variants:

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, 10:17 p.m. | Last Modified: 9 Dec 2021, 10:17 p.m.

Panel Version: 1.0

Causes a paroxysmal neurological disorder and included in this panel due to phenotypic overlap. Gene encodes adenylate cyclase 5, part of family of enzymes responsible for the synthesis of cAMP. Multiple families and a mouse model.

Created: 26 Oct 2020, 10:19 a.m. | Last Modified: 26 Oct 2020, 10:19 a.m.

Panel Version: 0.29

Mode of inheritance
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
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• 32647899
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