BACKGROUND Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown. METHOD Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, w...

This article presents a clinical observation of patient with rare form primary dystonia – type 28 associated heterozygous mutation in the KMT2B gene (OMIM: 617284) for first time Russian literature. The disease started at age 6 years unilateral foot, acquired features generalized 1st year from beginning. found proband (chr19:36229249GC>G) was not described earlier. Dystonia insensitive to le...

We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been reported in families presenting with Leber hereditary optic neuropathy (LHON) alone, LHON plus dystonia, or pediatric-onset dystonia. The proband had shown dysarthria, pro...

UNLABELLED Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. OBJECTIVE To associate clinical information of patients with dystonia with the TOR1-A gene mutations. METHOD Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic ...

Dystonia is defined as a “neurologic syndrome characterized by involuntary, sustained, patterned contractions of opposing muscles, causing twisting and repetitive movement or abnormal postures” may be associated with tremor (dystonia tremor) or myoclonus (myoclonic dystonia). 1 Hemifacial spasm is characterized by irregular, involuntary muscle contraction on one side of the face. This disease t...

Eight patients suffering from various forms of idiopathic dystonia are described whose initial referral was for an orthopaedic opinion. The diagnoses of these patients, who were seen over a two-year period, comprised dystonia musculorum deformans, dystonia of the foot, spasmodic torticollis and occupational cramps. Although various musculoskeletal sequelae often occur, the primary underlying ne...

A genetically confirmed case of spinocerebellar ataxia type 3 (SCA 3), presenting with disabling foot dystonia, peripheral neuropathy, and minimal cerebellar signs is reported. The dystonia improved dramatically with levodopa treatment in the absence of additional parkinsonian feature. A trial of levodopa for dystonia in SCA 3 may be of therapeutic benefit, at least in the initial stage of the ...

Case presentation: D.H.S., male, 23 months, non-consanguineous parents, born at term, pregnancy and delivery without complications, healthy 7-year-old brother, no cases of epilepsy or developmental delay in the family. From birth he had difficulty breastfeeding hypotonia, 3 months started episodes behavioral arrest, 9 lip cyanosis, hypertonia four limbs lasting less than one minute post-ictal w...

Perhaps among the central nervous system (CNS) conditions with muscle hyperactivity, dystonia and spasticity figure as those that are disabling and requiring therapeutic intervention. Dystonia is a neurological syndrome characterized by sustained muscle contractions usually producing twisting and repetitive movements or abnormal postures. The sustained movements of dystonia may have overlying s...