Spinocerebellar ataxia type-13

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Spinocerebellar ataxia type-13 (pronounced: spi-no-ser-e-bel-lar a-tax-ia type-thir-teen) is a rare, genetic, neurodegenerative disorder characterized by progressive cerebellar ataxia resulting in unsteady gait, clumsiness, dysarthria, and nystagmus.

Etymology

The term "Spinocerebellar" is derived from the Latin words 'spina' meaning 'spine', 'cerebellum' meaning 'little brain', and 'ataxia' meaning 'lack of order'. The term refers to the disorder's effect on the spinal cord and cerebellum, which are parts of the nervous system that control muscle movements. The number '13' refers to the specific subtype of the disorder, which is caused by mutations in the KCNC3 gene.

Symptoms

The symptoms of Spinocerebellar ataxia type-13 typically begin in early childhood and may include delayed motor development, poor coordination, and difficulty with balance and speech. As the condition progresses, affected individuals may develop a tremor that worsens with movement, muscle stiffness (spasticity), and problems with eye movement.

Causes

Spinocerebellar ataxia type-13 is caused by mutations in the KCNC3 gene. This gene provides instructions for making a protein that is essential for normal nerve cell function. Mutations in the KCNC3 gene disrupt the normal function of nerve cells, particularly those in the cerebellum, leading to the signs and symptoms of Spinocerebellar ataxia type-13.

Diagnosis

Diagnosis of Spinocerebellar ataxia type-13 is based on the presence of characteristic neurological symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Spinocerebellar ataxia type-13. Treatment is symptomatic and supportive and may include physical therapy, speech therapy, and medications to help manage symptoms.

See also

External links

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