Segmental dystonia

Introduction Segmental dystonia: characterized by segmental distribution, such as cranial-neck dystonia, upper or lower limbs with or without the central axis, dystonia of the head and neck, lower limbs with or without trunk dystonia, trunk - The neck (does not affect the head and face) dystonia and so on. Segmental dystonia is a type of dystonia syndrome. The cause of idiopathic dystonia is unknown, which may be related to heredity. Secondary dystonia is often a symptom of lesions such as basal ganglia, thalamus and brainstem reticular formation.

Cause

The cause of idiopathic dystonia is unknown, which may be related to heredity. Secondary dystonia is often a symptom of lesions such as basal ganglia, thalamus and brainstem reticular formation.

A few have a family history, are autosomal dominant or recessive, or X-linked inheritance, most commonly seen in children or adolescents aged 7-15. Most of the primary torsion mites of autosomal dominant inheritance are caused by mutations in the DYT1 gene located at 9q32-34, with a penetrance rate of 30% to 50%. Dopa-responsive dystonia is also autosomal dominant, resulting from a mutation in the guanosine triphosphate cyclase-hydrogenase-1 (GCH-1) gene. In Paray Island, Philippines, there is a dystonia-Parkinson's syndrome with X-linked recessive inheritance. Familial localized dystonia, usually autosomal dominant, incomplete penetrance.

an examination

Related inspection

Muscle tone examination positron emission tomography (PET)

1, the diagnosis of torsion is not difficult, because the neck, trunk, limbs and pelvis and other strange torsional movements are unique to the disease, you can see at a glance.

2. There are no morphological changes in light microscopy in some cases; however, most of the small neuronal degeneration of the putamen, thalamus, and caudate nucleus can be found, as well as non-specific changes in lipids and pigments in the basal ganglia. Occasionally, there are degenerations such as globus pallidus, substantia nigra, luis, cerebellar dentate nucleus, olive nucleus and cerebral cortex.

Differential diagnosis

Dystonia syndrome should be distinguished from myoclonus and snoring. The muscle tension of this disease is a centrally intense involuntary muscle contraction, which is different from Parkinson's disease.

(1) Identification with chorea and stiff syndrome: The distinguishing point between torsion and chorea is the involuntary movement of chorea, the unpredictable movement pattern, the lack of persistent posture abnormality, and the decrease of muscle tone. The involuntary movement of torsion is slow, the movement pattern is relatively fixed, there is persistent posture abnormality, and the muscle tension is increased. The stiff syndrome is characterized by parotid trunk muscles (the paraspinal muscles and abdominal muscles) and proximal muscles of the extremities, stiffness, stiffness and rigidity, while the facial muscles and distal muscles of the limbs are often unaffected, and stiffness can significantly limit the active movement of the patient. And often accompanied by pain, EMG can show continuous exercise unit electrical activity during rest and muscle relaxation, easy to distinguish from dystonia.

(2) Head tremor, congenital torticollis identification: congenital torticollis early onset, may be due to fibrosis after sternocleidomastoid hematoma, congenital absence or fusion of cervical vertebrae, cervical myositis, cervical lymphadenitis And caused by eye muscle paralysis (such as oblique muscle paralysis). Because of the spasmodic torticollis, paroxysmal involuntary paralysis often occurs, similar to head tremor, which needs to be differentiated from primary tremor and Parkinson's disease.

(3) Differentiation from the infraorbital joint syndrome, mandibular malocclusion, hemifacial spasm, and neurosis: Hemifacial spasm is a twitch-like manifestation of the lateral muscles and eyelids, without the involuntary movement of the mouth-mandible.

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