early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for th...

Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary dystonia genes were identified that provide new insight into dystonia pathogenesis. The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). Furthermore, this pathway is also dysfuncti...

A woman with progressive, medically intractable right upper limb dystonia underwent a pallidotomy with only transient improvement. During the procedure her dystonia became more severe as she repeatedly made a fist to command in order to provoke dystonia transiently (movement provoked dystonia). Comparisons within cells in the internal segment of the globus pallidus (Gpi) disclosed that the firi...

Deep brain stimulation (DBS) at the internal globus pallidus (GPi) is currently approved for the treatment of primary generalized and segmental dystonia. Younger age at surgery, shorter disease duration, and absence of fixed skeletal deformities correlate with a better response to stimulation. Patients with cervical dystonia may also improve. As a group, patients with secondary dystonias respon...

Introduction Although the subthalamic nucleus (STN) has proven to be a safe and effective target for deep brain stimulation (DBS) in treatment of primary dystonia, rates individual improvement vary considerably. On premise selecting appropriate patients, location contacts dorsolateral sensorimotor area STN may an important factor affecting therapeutic effects, but optimal remains unclear. This ...

Dystonia is a rare manifestation of multiple sclerosis (MS), but it always interferes with the functional performance and quality of life. We report a rare case of long-lasting paroxysmal dystonia associated with MS. The patient was a 40-year-old woman with relapsing- remitting MS for 6 years. During the latest attack of MS, she suffered from long-lasting paroxysmal dystonia in her left hand. D...

BACKGROUND Primary dystonia is a chronic neurological movement disorder that causes abnormal muscle movements. Pain and emotional distress may accompany these physical symptoms. Behavioural interventions are used to help people with long term conditions improve their quality of life. Little is known about behavioural interventions applied to Dystonia. We report a systematic review of studies re...

Dystonia is an involuntary movement involving twisting and turning of agonist and antagonist muscles. Cervical dystonia is isolated to neck musculature. Botulinum toxin type A is a safe and effective treatment of this disabling and often painful syndrome. Three forms of botulinum toxin type A are available worldwide to treat patients with cervical dystonia. This is a review of the studies of bo...

BACKGROUND Adult-onset focal dystonias (AOFDs) are non-task-specific or task-specific and may spread to other body segments of affected patients. CASE REPORT We report the case of a barber with non-task-specific craniocervical dystonia and a new occupational focal hand dystonia (while using scissors). DISCUSSION Different AOFDs may develop and coexist in the same "vulnerable" patient. Haird...

Cervical Dystonia (CD) is the most common type of focal dystonia in movement disorders units any specialized hospital around world. Botulinum Toxin (BT) infiltration treatment choice for CD, according to experts world, however efficacy and tolerance BT therapy CD depend on accuracy when released into muscles. We reviewed medical literature regard use guiding tools patients. Results: The such as...