Dystonias are a group of hyperkinetic neurological disorders characterized by sustained involuntary movements or repetitive muscular contractions which result in twisting movements or abnormal fixed postures. Dystonia can affect the limbs, the trunk and the face and it can be fixed or intermittent. Sometimes, the abnormal movements may resemble a tremor (i.e., dystonic tremor).
Dystonias can be subdivided in focal, for example cervical dystonia and the writer’s cramp, or segmental, when two contiguous parts of the body are involved, or generalized, which are the rarest form and generally have an early onset.
Therapies for dystonias should be highly personalized and include oral therapies (e.g., anticholinergics and levodopa), botulin toxin infiltrations, physical therapy, and more invasive approaches, such as deep brain stimulation (DBS) and MRI-guided focused ultrasound ablation (MRgFUS).
Dystonia can be inherited or caused by other factors, such as birth-related problem, physical head trauma, infection, poisoning (e.g., lead and manganese poisoning) or pharmaceutical drugs, in particular typical neuroleptics.
Our clinical and research group focuses on clinical diagnosis, genetic analysis, and treatment of dystonias. We perform genetic analysis through a targeted gene panel to identify known genetic causes of dystonia. Currently, our dystonia gene panel includes 49 genes (ADCY5, ANO3, ATP13A2, ATP1A3, ATP7B, C19ORF12, CIZ1, CP, DCAF17, DDC, DDP, DNAJC12, ECHS1, FA2H, FTL, GCH1, GNAL, GNAO1, HIBCH, KCNMA1, KCTD17, KMT2B, PANK2, PLA2G6, PDE10A, PNKD, PRKRA, PRRT2, SCN8A, SGCE, SERAC1, SLC19A3, SLC2A1, SLC30A10, SLC39A14, SUCLA2, SPR, TH, THAP1, TIMM8A, TOR1A, TUBB4A, VAC14, VPS11, VPS13A, VPS16, VPS41, WDR45, XK). When the genetic diagnosis is not reached with a standard approach, we search for novel genetic causes of dystonia through more innovative approaches, such as whole-exome sequencing. In the last years, our particular expertise in the field of genetics of rare movement disorders led us to discover novel genetic causes of inherited dystonias.