Spinocerebellar ataxia

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Spinocerebellar ataxia
Diagram of the human brain highlighting the cerebellum
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Ataxia, dysarthria, dysphagia, nystagmus, tremor
Complications N/A
Onset Typically adulthood
Duration Chronic
Types N/A
Causes Genetic mutation
Risks Family history
Diagnosis Genetic testing, neurological examination
Differential diagnosis Multiple sclerosis, Friedreich's ataxia, ataxia-telangiectasia
Prevention N/A
Treatment Physical therapy, occupational therapy, speech therapy
Medication N/A
Prognosis Progressive
Frequency Rare
Deaths N/A


Autosomal dominant inheritance pattern

Spinocerebellar ataxia (SCA) is a term referring to a group of hereditary ataxias that are characterized by degenerative changes in the part of the brain related to the control of movement (cerebellum) and sometimes in the spinal cord.

Symptoms[edit | edit source]

The symptoms of spinocerebellar ataxia can vary widely depending on the specific type. However, most types of SCA share certain common symptoms. These include:

  • Ataxia, or lack of muscle coordination, which may affect the patient's gait, balance, speech, or eye movements.
  • Dysarthria, or difficulty speaking, which may manifest as slurred or slow speech.
  • Dysphagia, or difficulty swallowing.
  • Nystagmus, or involuntary eye movement.
  • Neuropathy, or damage to the peripheral nerves, which can cause numbness or weakness in the limbs.

Causes[edit | edit source]

Spinocerebellar ataxias are caused by mutations in specific genes. These mutations are usually inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children.

Diagnosis[edit | edit source]

Diagnosis of spinocerebellar ataxia is based on clinical observation of symptoms, a detailed patient history, and genetic testing to identify the specific mutation causing the disease.

Treatment[edit | edit source]

There is currently no cure for spinocerebellar ataxia. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and medication to control symptoms such as tremors or muscle stiffness.

See also[edit | edit source]

References[edit | edit source]


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Contributors: Prab R. Tumpati, MD