Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a 13-year-old boy with juvenile Huntington disease diagnosed by DNA analysis. Symptoms started with dysarthria at 6 years of age, which was followed by progressive dysgraphia and gait disturbance due to dystonia from 7 years, and by epileptic seizures from 12 years. Magnetic resonance imaging revealed atrophy of the bilateral caudate nuclei and T2- and proton-weighted high intensity area in both putamina. The CAG (cytosine-adenine-guanine) trinucleotide repeat on chromosome 4 p16 was markedly expanded to 81. For a child with dystonia with mental deterioration, juvenile Huntington disease should be considered in the differential diagnosis.
 ...
PMID:[A case of juvenile Huntington's disease presenting dystonia and confirmed by DNA analysis]. 924 90

The approach of the physiotherapist to each form of dystonia is individual and has to be specific. There is not one single method but several strategies related to the different clinical forms. Although there is no standard programme applicable to all forms of cervical dystonia, we can distinguish a number of guidelines for the different clinical forms. In the myoclonic form, emphasis is placed on seeking to immobilize the head, and for the tonic form, on rehabilitating corrector muscles. Physiotherapy and botulinum toxin injections mutually interact in order to reduce the symptoms. Recent studies have shown the clinical benefits of physiotherapy. The physiotherapy of writer's cramp is designed as a re-learning process. The first step is to perform exercises to improve independence and precision of fingers and wrist movements. Then, the muscles involved in the correction of dystonic postures are trained by drawing loops, curves and arabesques. The aim of rehabilitation is not to enable patients with writer's cramp to write as they used to, but to help their dysgraphia evolve towards a fast, fluid and effortless handwriting. A reshaping of the sensory cortical hand representation appears to be associated with clinical improvement in patients with dystonia after rehabilitation.
 ...
PMID:Physiotherapy of focal dystonia: a physiotherapist's personal experience. 2059 Aug 17