La distonía es un trastorno del movimiento heterogéneo que presenta contracciones musculares sostenidas o intermitentes que provocan movimientos o posturas anormales, a menudo repetitivos, o ambos. Los movimientos distónicos suelen tener patrones y torsiones, incluso trémulos. Generalmente se inicia o empeora por acción voluntaria y se asocia con la activación del músculo de desbordamiento. De los diferentes tipos de distonía, la distonía focal, más específicamente la distonía cervical es la más común y es aproximadamente 10 veces más frecuente que la distonía generalizada. Su heterogeneidad clínica explica un efecto profundo en la vida personal, vocacional y emocional de un paciente y puede afectar en gran medida su capacidad para vivir de forma independiente. La distonía puede ser heredada, adquirida o idiopática. Se ha identificado un fuerte componente genético en los síndromes de distonía familiar.
El panel de precisión de distonía de Igenomix puede servir como una herramienta de diagnóstico precisa y dirigida en última instancia, así como un diagnóstico diferencial de calambres musculares que conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.
La utilidad clínica de este panel es:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
ALS2 |
Amyotrophic Lateral Sclerosis, |
AR |
99.09 |
83 of 83 |
|
ANG |
Amyotrophic Lateral |
AD |
– |
– |
|
ANXA11 |
Amyotrophic Lateral |
AD |
99.91 |
15 of 15 |
|
ATL1 |
Neuropathy, Spastic |
AD |
100 |
93 of 93 |
|
ATXN2 |
Parkinson Disease, |
AD |
91.78 |
9 of 10 |
|
BSCL2 |
Encephalopathy, |
AD,AR |
99.83 |
60 of 61 |
|
C9ORF72 |
Amyotrophic Lateral |
AD |
– |
– |
|
CCNF |
Amyotrophic Lateral |
– |
99.11 |
22 of 23 |
|
CFAP410 |
Retinal Dystrophy, |
AR |
– |
– |
|
CHCHD10 |
Frontotemporal Dementia, |
AD |
95.3 |
22 of 30 |
|
CHMP2B |
Amyotrophic Lateral |
AD |
99.99 |
22 of 22 |
|
DAO |
Amyotrophic Lateral |
– |
100 |
12 of 12 |
|
DCTN1 |
Amyotrophic Lateral |
AD,AR |
100 |
56 of 56 |
|
EPHA4 |
Amyotrophic |
– |
99.98 |
5 of 5 |
|
ERBB4 |
Amyotrophic |
AD |
100 |
13 of 14 |
|
FIG4 |
Amyotrophic Lateral |
AD,AR |
99.92 |
72 of 72 |
|
FUS |
Amyotrophic Lateral |
AD |
100 |
117 of 117 |
|
GBE1 |
Glycogen Storage |
AR |
99.95 |
71 of 74 |
|
GLE1 |
Congenital Arthrogryposis, |
AR |
100 |
17 of 17 |
|
GLT8D1 |
Amyotrophic |
– |
100 |
7 of 7 |
|
GRN |
Ceroid Lipofuscinosis, |
AD,AR |
100 |
220 of 229 |
|
HEXA |
Tay-Sachs |
AR |
100 |
205 of 206 |
|
HNRNPA1 |
Amyotrophic Lateral |
AD |
99.98 |
13 of 13 |
|
HNRNPA2B1 |
Inclusion Body Myopathy, |
– |
99.98 |
5 of 6 |
|
HSPD1 |
Leukodystrophy, |
AD,AR |
100 |
7 of 7 |
|
KIF5A |
Amyotrophic Lateral |
AD |
100 |
85 of 85 |
|
MAPT |
Frontotemporal And |
AD,AR |
97.65 |
110 of 111 |
|
MATR3 |
Amyotrophic Lateral |
AD |
99.98 |
21 of 21 |
|
NEFH |
Amyotrophic Lateral |
AD,AR |
97.5 |
28 of 31 |
|
NEK1 |
Amyotrophic Lateral |
AD,AR,MU,D |
99.83 |
73 of 74 |
|
OPTN |
Amyotrophic Lateral |
AD,AR |
97.02 |
68 of 68 |
|
PFN1 |
Amyotrophic Lateral |
AD |
80.25 |
8 of 8 |
|
PON1 |
Amyotrophic Lateral |
– |
100 |
8 of 8 |
|
PON2 |
Amyotrophic Lateral |
– |
99.98 |
3 of 3 |
|
PON3 |
Amyotrophic Lateral |
– |
100 |
3 of 3 |
|
PPARGC1A |
Amyotrophic Lateral |
– |
99.88 |
6 of 6 |
|
PRF1 |
Aplastic Anemia, |
AR |
99.99 |
196 of 196 |
|
PRPH |
Amyotrophic |
AD,AR |
100 |
10 of 10 |
|
PSEN1 |
Acne Inversa, Alzheimer |
AD |
100 |
326 of 332 |
|
REEP1 |
Neuronopathy, |
AD |
100 |
62 of 62 |
|
SETX |
Amyotrophic Lateral |
AD,AR |
99.71 |
219 of 227 |
|
SIGMAR1 |
Amyotrophic Lateral |
AR |
100 |
20 of 20 |
|
SLC52A2 |
Brown-Vialetto-Van |
AR |
100 |
31 of 32 |
|
SLC52A3 |
Bulbar Palsy |
AR |
100 |
43 of 43 |
|
SOD1 |
Amyotrophic Lateral |
AD,AR |
100 |
217 of 221 |
|
SPART |
Spastic |
AR |
99.9 |
– |
|
SPAST |
Spastic |
AD |
99.98 |
616 of 655 |
|
SPG11 |
Amyotrophic Lateral |
AR |
99.93 |
289 of 297 |
|
SQSTM1 |
Frontotemporal And |
AD,AR |
99.25 |
105 of 107 |
|
TAF15 |
Chondrosarcoma, |
– |
95.53 |
13 of 13 |
|
TARDBP |
Amyotrophic Lateral |
AD |
90.84 |
71 of 74 |
|
TBK1 |
Encephalopathy, |
AD |
99.91 |
141 of 142 |
|
TIA1 |
Welander Distal |
AD,AR |
100 |
13 of 13 |
|
TREM2 |
Polycystic Lipomembranous |
AD |
100 |
55 of 55 |
|
TRPM7 |
Amyotrophic Lateral |
AD |
99.59 |
6 of 6 |
|
TUBA4A |
Amyotrophic Lateral |
AD |
99.97 |
13 of 13 |
|
UBQLN2 |
Amyotrophic |
X,XD,G |
99.78 |
– |
|
UNC13A |
Amyotrophic Lateral |
– |
99.41 |
12 of 12 |
|
VAPB |
Amyotrophic |
AD |
100 |
9 of 9 |
|
VCP |
Amyotrophic Lateral |
AD |
100 |
68 of 69 |
|
WASHC5 |
Dandy-Walker- |
AD,AR |
99.99 |
– |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
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