Panel 11: Movement disorders


Includes:

All genes associated with dystonias, ataxias (not including those associated with trinucleotide expansion and spastic paraparesis.

Dystonia is a movement disorder that causes involuntary muscle contractions. These contractions result in twisting and repetitive movements.

Ataxia is not a specific disease or diagnosis, it is a symptom. Ataxia means clumsiness or loss of coordination.

Ataxia may affect the fingers, hands, upper and lower extremities, body, speech or eye movements. This loss of coordination may be caused by a number of different medical or neurologic conditions; for this reason, it is important that a person with ataxia seek medical attention to determine the underlying cause of the symptom and get the proper diagnosis.

Moreover, and encompassing a number of defined clinical conditions, these diseases have a common denominator between them, progressive impaired balance when standing and walking, along with a lack of coordination of the limbs.

NMG11: Movement disorders

Included genes:

SPR DBH SLC6A3 THAP1
TH DDC TOR1A ATP1A3
GCH1 ABAT SGCE SLC2A1
MR1 GCH1 DRD2 PRRT2
PRKRA ACTB UCHL1 WDR81
TCN1 ATP8A2 DNMT1 MTPAP
AFG3L2 C10orf2 FGF14 NBN
ANO10 CA8 GRM1 PAX6
APTX ADCK3 ITPR1 PDYN
ATCAY CACNA1A KCNA1 PIK3R5
ATM CACNB4 KCNC3 POLG
POLG CAMTA1 MRE11A PRKCG
PRNP SYNE1 ZNF592 TPP1
RNF170 SYT14 STUB1 (CHIP) UBR4
SACS TDP1 WWOX RNF216
SCN8A TGM6 CHCHD10 GRID2
SETX TTBK2 TMEM240 SPTBN2
SLC1A3 TTPA KCND3

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