Episodic involuntary movements

Introduction Paroxysmal ataxia type III (EA3), also known as paroxysmal ataxia with paroxysmal dance, is a disease of 2 to 15 years of age, which occurs for a part of a free muscle, a muscle or a certain muscle group. Autonomic contraction, skeletal muscle movements in which the patient has a clear consciousness and cannot control it by himself. Clinically common are fasciculation, muscle fiber twitching, convulsions, convulsions, myoclonus, tremors, dance-like movements, hand and foot movements, and twisting sputum. Can be caused by physiological or mental factors, but mostly caused by organic diseases, mainly in infection, poisoning, degeneration, genetic and familial dysplasia and other diseases, can also be seen in cerebrovascular disease, trauma, tumors and so on.

Cause

Paroxysmal ataxia is a rare autosomal dominant genetic disease that is caused by a mutation in a gene encoding an ion channel. EA1 is caused by a mutation in the KCNA1 gene, which is located at 12p13 and encodes a voltage-gated potassium channel Kv1.1 subunit. Kv1.1 can be expressed in myelinated and unmyelinated fibers, and plays an important role in maintaining neuronal excitability, production and conduction of action potentials, and excitatory conduction between neurons. EA2 is caused by a mutation in the CACNA1A (calcium channel gene) gene, which is located at 19p13, which is identical to the familial hemiplegic migraine (FHM) and SCA6 pathogenic genes. These three are currently considered to be allelic diseases, but mutations. Type and pathogenesis are different.

an examination

Mainly manifested as paroxysmal involuntary movement, posture dystonia, balance disorder, dysarthria. Emotional stress and drinking can aggravate seizures. The physical examination during the interictal period was normal. Symptoms of ataxia, balance disorders, dysarthria, more than 50% of patients with vertigo and nausea, about half of patients with migraine, about 1/3 of patients with characteristic spontaneous nystagmus, in addition to Tinnitus, drooping eyelids, double vision, and occasional hallucinations. Usually not accompanied by muscle fiber twitching. Characteristic gaze often induces nystagmus during the interictal period.

Differential diagnosis

Differential diagnosis of paroxysmal involuntary movement:

1. Dance-like involuntary movement: Dance-like involuntary movement is a clinical manifestation of involuntary movement. Involuntary movement or abnormal movement is an involuntary contraction of a part of a muscle, a muscle or a certain muscle group. It refers to the skeletal muscle movement in which the patient has a clear consciousness and cannot control it by himself. Clinically common are fasciculation, muscle fiber twitching, convulsions, convulsions, myoclonus, tremors, dance-like movements, hand and foot movements, and twisting sputum.

2, rhythmic stereotyped repetitive involuntary movement: late onset dyskinesia clinical manifestations of rhythmic stereotyped repetitive involuntary movement. Tardive dyskinesia (TD), also known as delayed onset dyskinesia, persistent dyskinesia, induced by antipsychotic drugs, is a persistent stereotyped repetitive involuntary movement. Crane (1968) first proposed that it is the most severe and thorny extrapyramidal reaction caused by antipsychotic treatment, and the incidence is quite high. The most common are caused by phenothiazines and butyrophenones. The incidence of oral antipsychotic drugs is 20% to 40%, and the incidence of long-acting antipsychotic drugs is about 50%.

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