Childhood dystonia

Introduction Deformative dystonia, idiopathic torsion myodystonia, formerly known as deformed dystonia, is a group of more common extrapyramidal diseases characterized by active initiative when starting active exercise. Muscle and antagonistic muscles simultaneously undergo persistent involuntary contractions, presenting a special torsional posture or posture. The abnormal movement of this disease begins with local dystonia and gradually develops into systemic dystonia. Due to the early onset of the disease, the disease has recently been called early-onset torsion myodystonia, and the hereditary pattern is autosomal dominant inheritance.

Cause

(1) Causes of the disease

The disease is a hereditary disease, mainly autosomal dominant, and the cause is unknown.

(two) pathogenesis

1. Extrapyramidal physiological anatomical function

The extrapyramidal structure is very complex. In a broad sense, all movement-related central nervous structures can belong to the extrapyramidal system except for the cone system. The extrapyramidal system includes the basal ganglia, the substantia nigra, the red nucleus, the subthalamic nucleus, the cerebellar dentate nucleus, and the brainstem reticular structure. The main structure is the basal ganglia. The basal ganglia consists of a caudate nucleus and a lenticular nucleus. The lenticular nucleus is divided into the outer part of the putamen and the inner part of the globus pallidus. The caudate nucleus and the putamen are collectively called striatum. The extrapyramidal system is a multi-neuronal structure whose conduction pathway forms a large circulating circle. In the circulating circle, the excitatory medium is acetylcholine and the inhibitory medium is dopamine, which ensures that the active motion of the cone system is more precise, accurate and stable.

2. Pathology and pathogenesis

There are two types of symptoms of extrapyramidal lesions: abnormal muscle tone and involuntary movement. Abnormal muscle tone can be enhanced, weakened, and migratory and weakened; involuntary movements include tremor, dance, hand and foot, dystonia, myoclonus, torsion and convulsions, and symptoms of extrapyramidal general during sleep Disappear, increase when you are nervous or emotional.

an examination

Related inspection

Muscle tension test slit lamp

General laboratory tests are not particularly visible.

Neuroimaging, slit lamp examination, etc. are normal, and central neurotransmitter examination can provide clues. Brain PET scans with fludopa found a decrease in dopamine uptake by the nigrostriatal system, but clinical application was difficult.

Differential diagnosis

Dystonia is a group of symptoms, in addition to the disease, but also seen in many diseases.

1. acquired non-progressive dystonia: seen in perinatal asphyxia, hypoxia, cerebral palsy, encephalitis, trauma, poisoning (such as CO poisoning), cerebrovascular disease. Also seen in multiple sclerosis and tumors.

2. Drug-induced dystonia: can be seen in the use of carbamazepine (carbamazepine), phenytoin, phenothiazines, butyrylbenzene (including haloperidol), chloroquine, antihistamines, tricyclic Antidepressants, lithium agents, etc. After the first dose of haloperidol, dystonia can occur, which is manifested as torticollis, angulation, dislocation, occlusion, ocular eye crisis, swallowing and dysphonia, and disappear after reduction or deactivation.

3. Congenital metabolic abnormalities with symptoms of dystonia: These diseases have other progressive neurological symptoms and specific biochemical abnormalities. Such as Wilson's disease, brain lipid deposition (GML or GM2 gangliosides, juvenile waxy lipofuscinosis, Niemann's disease, metachromatic leukodystrophy), organic acid blood Disease, amino aciduria (such as phenylketonuria) and so on.

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