Table 1.

Clinical features and ADCY5 mutations reported to date

		Frequency Range
Clinical Features	No. of Cases (Where Reported)	% (n = 20)	% (Where Reported)	Our Series
Presentation
Birth to 6 months	4/19	20	21	3/7
7 months to 2 years	7/19	35	37	3/7
>2 years	8/19	40	42	1/7
Syndrome
CWEDD	5/20	25	25	5/7
MD	1/20	5	5	1/7
IOIC	1/20	5	5	1/7
COPCD	2/20	10	10	0/7
FDFM	6/20	30	30	0/7
EOADCD	2/20	10	10	0/7
BHC	3/20	15	15	0/7
Gene mutation
c.1252C>T	10/20	50	50	5/7
c.1252C>G	1/20	5	5	1/7
c.1253G>A	1/20	5	5	1/7
c.2176G>A	6/20	30	30	0/7
c.2088+1G>A	2/20	10	10	0/7
Phenomenology
Chorea	18/19	90	95	6/7
Facial dyskinesia	11/20	55	55	5/7
Axial hypotonia	8/16	40	50	6/7
Dystonia	14/17	70	82	6/7
Myoclonus	3/11	15	27	2/7
Spasticity	6/20	30	30	3/7
Intellectual disability	2/20	10	10	2/7
upward gaze palsy	7/13	35	54	4/7
Motor regression	6/20	30	30	2/7
Epilepsy	1/19	5	5	0/7
Duration of episodic exacerbation
Minutes to hours	8/10	40	80	6/7
Hours to days	1/10	5	10	0/7
Constant	1/10	5	10	1/7
Exacerbating factors
Action	8/16	40	50	6/7
Stress	10/16	50	63	4/7
Awakening	3/16	15	19	0/7
Drowsiness	7/16	35	44	6/7
Improvement with
Clonazepam	4/15	20	27	4/7
Clobazem	2/15	10	13	2/7
Carbamazepine	1/15	5	7	1/7
Propranolol	1/15	5	7	NT
Acetazolamide	2/15	10	13	NT
Trihexyphenidyl	3/15	15	20	0/7
Tetrabenazine	2/15	10	13	NT
Caffeine	1/15	5	7	1/7
Action	1/15	5	7	0/7

NT, not tried; CWEDD, choreoathetosis with exacerbation during drowsiness; MD, myoclonus dystonia; COPCD, childhood onset paroxysmal choreiform and dystonic movements; FDFM, Familial dyskinesia and facial myokymia; EOADCD, early onset autosomal dominant chorea and dystonia; IOIC, infantile onset isolated chorea; BHC, benign hereditary chorea