Inhaltsverzeichnis
Was ist eine episodische Ataxie?
Episodische Ataxien sind genetische Erkrankungen bei denen intermittierend eine Koordinationsstörung auftritt: Es sind verschiedene Formen aufgrund klinischer Kriterien abgegrenzt worden, für einige Formen konnten ursächliche genetische Veränderungen identifiziert werden.
Was ist Ataxie Typ 2?
Die Spinozerebelläre Ataxie Typ 2 (SCA2) ist ein Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch Stammataxie, Dysarthrie, verlangsamte Sakkaden und, seltener, durch Augenlähmung und Chorea.
What is the ataxia neuropathy spectrum?
As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed).
Is there a cure for sensory ataxia due to peripheral neuropathy?
Sensory Ataxia Due to Peripheral Neuropathy. For example, vitamin B12 deficiency is treated with vitamin B12 supplementation (typically starting with injections then switching to oral); diabetic neuropathy is managed by maintaining tight sugar control. Regardless of the cause of neuropathy, balance and gait are often improved by physical therapy.
What is sensory ataxic neuropathy- dysarthria-ophthalmoparesis syndrome?
Summary. Sensory ataxic neuropathy- dysarthria -ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.
What tests are needed to diagnose sensory ataxia?
Certain blood tests are usually required to assess for the cause of neuropathy. The most common causes of neuropathy are diabetes, vitamin B12 deficiency, alcohol-related, and age-related. Treatment of sensory ataxia depends on the cause of the neuropathy.
Was ist EA1?
Der episodischen Ataxie Typ 1 (EA1) liegen Punktmutationen im Kaliumionenkanal-Gen KCNA1 zugrunde. Die betroffenen Kaliumionenkanäle sind in Regionen des Nervensystems wie dem Kleinhirn und den Ranvierschen Schnürringen peripherer Nerven lokalisiert.
What is the meaning of acute cerebellar ataxia?
Acute cerebellar ataxia (ACA) is a disorder that occurs when the cerebellum becomes inflamed or damaged. The cerebellum is the area of the brain responsible for controlling gait and muscle coordination. Acute means the ataxia comes on quickly, on the order of minutes to a day or two.
Can a brain tumor cause cerebellar ataxia?
Both cancerous and noncancerous tumours can lead to cerebellar ataxia by affecting the structure of the cerebellum, by placing pressure on it, or causing it to become inflamed. Cerebral palsy is a condition that affects movement, and is a result of brain injury either before, during, or shortly after birth.
How is a diagnosis of spinocerebellar ataxia confirmed?
A diagnosis of spinocerebellar ataxia (SCA) is often suspected when certain signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. Genetic testing is the best way to confirm SCA and identify the specific type, especially when a person also has family…
Is there a cure for Spinocerebellar ataxia (SCA)?
Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. There is no known cure for spinocerebellar ataxia (SCA). The best treatment options for SCA vary by type and often depend on the signs and symptoms present in each person.