Hereditary ataxia?

summary

Hereditary ataxia is a group of inherited neurodegenerative diseases with ataxia as the main clinical manifestation. The lesions are mainly located in the spinal cord, cerebellum and brainstem, so it is also called spinal cord cerebellum brainstem disease, also known as spinocerebellar ataxia. More than adult patients (over 30 years old) showed balance disorders, progressive limb coordination movement disorders, gait instability, dysarthria, eye movement disorders, hereditary ataxia? Let's talk about it

Hereditary ataxia?

Ataxia: gait abnormality is the most common and the first symptom of hereditary ataxia. It is manifested as drunken or scissors gait, and the instability of walking is more obvious when the road is not normal. With the progress of the disease, there may be instability or inability to sit up until bed. Dysarthria is one of the characteristics of hereditary ataxia. The main manifestations of the patients are stiff pronunciation (explosive speech), slow, monotonous and vague, unclear articulation, different volume, or intermittent, like eating language or reciting poetry; When the disease progressed to the late stage, almost all patients had dysarthria. Dysgraphia is the representative symptom of upper extremity ataxia. Patients often follow the symptoms of lower extremity ataxia and develop with the progress of the disease. It is characterized by irregular lines and unequal spacing between lines. The more the words are written, the larger the words are. It is called "overhandwriting", and the severe cases cannot write. ② Nystagmus and dyskinesia: horizontal, vertical, rotational or mixed nystagmus, uncoordinated nystagmus, periodic alternating nystagmus or dissociative nystagmus may occur in some patients; Ocular dyskinesia is more common in supranuclear ophthalmoplegia, or fixation palsy, slow jerk of eyeball, dysopia, etc.

Dysphagia and choking cough in drinking water are caused by the damage of brain stem nuclei. With the progress of the disease, the clinical manifestations are gradually obvious and common. Tremor is mainly manifested as motor tremor, postural tremor or intentional tremor. If accompanied by extrapyramidal damage, static tremor can also occur.

Spasticity. It was caused by the injury of pyramidal tract. The symptoms were increased muscle tension of trunk and limbs, active or hyperactive tendon reflex, patellar ankle clonus, positive Babinski sign and so on. Extrapyramidal symptoms. Due to the damage of basal ganglia, some patients may have Parkinson's disease like manifestations, or extrapyramidal manifestations such as facial and lingual twitching, myoclonus, hand foot bradykinesia, torsion spasm, dance like movements, etc.

matters needing attention

The preventive measures include avoiding consanguineous marriage, carrier gene testing and prenatal diagnosis, selective abortion and so on. If there is no serious cardiopulmonary complications, most of them will not affect the life span. A few patients were bedridden and disabled.