Cerebellar dysfunction

Introduction Cerebellar dysfunction: dyssynergia cerebellaris myoclonica is a clinical syndrome characterized by myoclonus, epilepsy, and cerebellar ataxia, first reported by Ramsay-Hunt in 1921, so it is also known as Ramsay-Hunt syndrome. Myoclonic cerebellar coordination disorder is an autosomal dominant genetic disease. There are many cases in the siblings, but there are also sporadic cases, OMIM: 159700. Gilbert observed that the genetic pattern in the family of patients with myoclonic cerebellar coordination disorder could not be completely explained by the law of autosomal dominant inheritance, and thus it was thought that it may be due to autosomal dominant inheritance and incomplete manifestation. In recent years, there is a big controversy about whether myoclonic cerebellar coordination disorder is a disease entity or a syndrome. In 1990, the Marseille collaboration group divided myoclonic cerebellar coordination disorder into two categories, namely progressive myoclonus. Progressive myoclonic epilepsy (PME) and progressive myoclonie ataxia (PMA). PME refers to myoclonus associated with seizures and progressive neurological decline, such as mild ataxia and dementia; PMA refers to myoclonus, progressive cerebellar ataxia, and seizures are infrequent. Its clinical manifestations are cerebellar dysfunction.

Cause

Pathological changes are atrophy of the primary dentate nucleus system, and the cerebellum is thinner on the upper foot, so it is also called "dental nucleus red nucleus atrophy". Under the light microscope, the dentate nucleus cells can be degenerated and disappeared. In severe cases, the demyelination of the cerebellum is degenerated, the demyelination of the spinal cord cerebellum and the axonal degeneration and rupture, and the degeneration of the red nucleus disappears, but the cerebral cortex is generally not involved. In 1994, Kobayashi et al reported that in a necropsy of myoclonic cerebellar coordination disorder, it was found that the frontal white matter demyelination, subcortical glial cells proliferated significantly, and the dentate nucleus and the lower olive nucleus showed clot-like degeneration.

an examination

Related inspection

Tracing test, counterattack, human body weight balance instrument, in-situ step test, finger test

The prevalence of men and women with myoclonic cerebellar coordination disorders is basically the same, and most of them start from 7 to 21 years old. The clinical features are myoclonus, cerebellar dysfunction, with or without a comprehensive episode of epilepsy. Myoclonus is the most common and earliest symptom of this disease. In the years before the onset of cerebellar dysfunction, the patient has had myoclonus. Myoclonus is diffuse, arrhythmia, uncoordinated, sudden and transient, limited to a part of the muscles or the whole group of muscles. Often induced or aggravated by changes in body position, photoacoustic stimulation, light sleep, mood changes, etc.

Cerebellar dysfunction such as dysarthria, intentional tremor, poor distance, poor rotation, limb ataxia is more pronounced than tonic ataxia. The tremor is more severe in the upper limbs than in the lower limbs. In severe cases, there is a flapping tremor. The degree of cerebellar symptoms and myoclonus may not be parallel. Patients with no obvious myoclonus may have persistent head shaking or tremors. Very few cases may have a mental decline, and some cases have seizures, and the form of seizures is generally a comprehensive myoclonus-tonic seizure.

The myoclonic cerebellar coordination disorder EEG is non-specific, and there are wide or scattered spikes, multiple spikes, and multiple spine slow waves, mostly bilateral.

Differential diagnosis

This syndrome should be distinguished from Baltic myoclonus (Unverricht Lundborg syndrome) and mitochondrial myopathy (MERRF). The first symptom of the former is mostly seizure (tonic-clonic or myoclonic seizure), and the disease gene is located at 21q22.3, caused by mutation of Cystatin B gene; the latter is mitochondrial disease, maternal inheritance, epilepsy and myoclonic seizures are obvious. The above can be diagnosed by genetic diagnosis.

The prevalence of men and women with myoclonic cerebellar coordination disorders is basically the same, and most of them start from 7 to 21 years old. The clinical features are myoclonus, cerebellar dysfunction, with or without a comprehensive episode of epilepsy. Myoclonus is the most common and earliest symptom of this disease. In the years before the onset of cerebellar dysfunction, the patient has had myoclonus. Myoclonus is diffuse, arrhythmia, uncoordinated, sudden and transient, limited to a part of the muscles or the whole group of muscles. Often induced or aggravated by changes in body position, photoacoustic stimulation, light sleep, mood changes, etc. Cerebellar dysfunction such as dysarthria, intentional tremor, poor distance, poor rotation, limb ataxia is more pronounced than tonic ataxia. The tremor is more severe in the upper limbs than in the lower limbs. In severe cases, there is a flapping tremor. The degree of cerebellar symptoms and myoclonus may not be parallel. Patients with no obvious myoclonus may have persistent head shaking or tremors. Very few cases may have a mental decline, and some cases have seizures, and the form of seizures is generally a comprehensive myoclonus-tonic seizure.

The myoclonic cerebellar coordination disorder EEG is non-specific, and there are wide or scattered spikes, multiple spikes, and multiple spine slow waves, mostly bilateral.

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