Cervical dystonia: about familial and sporadic cases in 88
          patients

Camargo, Carlos Henrique F.; Camargos, Sarah Teixeira; Becker, Nilson; Munhoz, Renato Puppi; Raskin, Salmo; Cardoso, Francisco Eduardo C.; Teive, Hélio Afonso G.

doi:10.1590/0004-282X20130225

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Articles • ANPArq. Neuro-Psiquiatr. 72 (2) • Feb 2014 • https://doi.org/10.1590/0004-282X20130225 linkcopy

Cervical dystonia: about familial and sporadic cases in 88 patients

Distonia cervical: considerações sobre casos esporádicos e familiares em 88 pacientes

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstracts

Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.

dystonia; cervical dystonia; DYT1; DYT6; genetic

Family	Patient	Sex	Age (years)	Age of onset (years)	Clinical features and familial history
1	1	M	24	20	GD (CD, Meige syndrome, trunk, left leg).
1	2	M	18	12	GD (CD, limbs, trunk and cranial dystonia). Several familial members with different forms of dystonia.
2	3	F	13	7	GD (CD, trunk and limbs). Father, a cousin, and an uncle with dystonia.
3	4	M	35	11	GD (CD, limbs and trunk).
3	5	M	30	10	SD (right arm, left arm and neck). The parents had consanguinity. Two cousins had dystonia.
4	6	M	92	70	SD (Cervical and right arm dystonia). He presented Parkinsonism.
4	7	M	68	56	FD (CD). No Parkinsonism No other familial members affected.
5	8	M	10	4	GD (CD, trunk and limbs). Two twins brothers with dystonia.
6	9	F	47	30	SD (CD, Meige syndrome and head tremor). Father with dystonia.
7	10	F	40	5	MD (left right and CD). She has a sister with dystonia in legs (most in right leg).
8	11	M	60	57	SD (CD, larynx, right arm and Meige syndrome). Sister and nice with oromandibular dystonia and CD.
9	12	F	47	39	SD (CD and oromandibular). Several familial members with CD (focal form).
10	13	F	31	9	GD (CD, arms and trunk). A cousin had dystonia.
11	14	F	33	12	GD (CD, limbs and trunk). Her father had CD.
12	15	F	17	2	GD (CD, limbs, cranial region and trunk). She had mental retardation. Her brother had CD without cognition features. The parents had consanguinity.
13	16	M	49	27	GD (CD, larynx, left arm and trunk).
14	17	F	25	18	SD (right arm, cervical and oromandibular dystonia).
14	18	F	16	6	GD (CD, oromandibular, larynx, limbs and trunk) The grandmother had mild face abnormal movements and speech disorder.
15	19	F	49	37	FD (CD and head tremor).
	20	F	27	25	FD (CD and head tremor).
	21	F	25	24	FD (CD).
	22	M	18	17	FD (CD). Grandmother with CD and head tremor.
16	23	F	67	64	SD (blepharospasm and CD). She had Parkinsonism. Her nice had blepharospasm.

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Site of onset	Sporadic cases	Familial cases	Total	p
Patients	65	23	88	–
Male:female ratio	1:1.95	1:1.3	1:1.75	–
Age of onset*	32.37±21.09	24.78±20.48	30.47±21.16	p=0.07
Age of onset Focal dystonia	42.45±16.89 (23)	32.2±13.49 (5)	41.05±16.87 (28)	p=0.10
Age of onset: segmental dystonia	34±23.58 (15)	42±22.62 (7)	35.55±24.13 (22)	p=0.24
Age of onset: multifocal dystonia	42 (1)	5 (1)	24.5±24.75(2)	–
Age of onset: generalized dystonia	13.12±9.93 (18)	11±7.16 (10)	12.36±9.10 (28)	p=0.28
Focal dystonia: generalized dystonia ratio	1.83:1	1:2.2	1:1	p=0.227

Presentation	Sporadic cases (n=65)	Familial cases (n=23)	Total (n=88)	p
1 Type	34	12	46	1
Torticollis	23	9	32
Laterocollis	11	3	14
Retrocollis	0	0	0
Anterocollis	0	0	0
2 Types	27	10	37	1
Torticollis + Laterocollis	10	5	15
Torticollis + Retrocollis	6	2	8
Torticollis + Anterocollis	3	2	5
Laterocollis + Retrocollis	6	0	6
Laterocollis + Anterocollis	2	1	3
3 Types	4	1	5	1
Torticollis + Laterocollis + Retrocollis	2	1	3
Torticollis + Laterocollis + Anterocollis	2	0	2

Site of onset	Sporadic cases	Familial cases	Total
Cranial-cervical	5	4	9
Cranial-facial	1	1	2
Cervical	4	3	7
Limbs	12	7	19
Arms	5	4	9
Legs	7	3	10