Spinocerebellar ataxia with axonal neuropathy type 2

=Spinocerebellar Ataxia with Axonal Neuropathy Type 2 = Spinocerebellar Ataxia with Axonal Neuropathy Type 2 (SCAN2) is a rare, inherited neurodegenerative disorder characterized by progressive ataxia and peripheral neuropathy. This condition is part of a group of disorders known as spinocerebellar ataxias, which are caused by degeneration of the cerebellum and its connections.

Clinical Features

SCAN2 is marked by a combination of symptoms that affect both the central and peripheral nervous systems. The primary clinical features include:

• Ataxia: Patients experience a lack of voluntary coordination of muscle movements, which can affect gait, speech, and eye movements.
• Peripheral Neuropathy: This involves damage to the peripheral nerves, leading to symptoms such as muscle weakness, numbness, and pain in the extremities.
• Other Neurological Symptoms: These may include dysarthria (difficulty speaking), nystagmus (involuntary eye movements), and tremors.

Genetic Basis

SCAN2 is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene are required for the disease to manifest. The specific gene associated with SCAN2 is not well-characterized, but it is believed to involve mutations that affect neuronal function and survival.

Diagnosis

Diagnosis of SCAN2 involves a combination of clinical evaluation, family history, and genetic testing. Key diagnostic tools include:

• Neurological Examination: To assess coordination, reflexes, and sensory function.
• Electromyography (EMG): To evaluate the electrical activity of muscles and the health of the peripheral nerves.
• Genetic Testing: To identify mutations associated with SCAN2.

Management

There is currently no cure for SCAN2, and treatment is primarily supportive and symptomatic. Management strategies include:

• Physical Therapy: To improve mobility and maintain muscle strength.
• Occupational Therapy: To assist with daily activities and enhance quality of life.
• Medications: To manage symptoms such as pain and muscle spasms.

Prognosis

The progression of SCAN2 varies among individuals. While the disease is progressive, supportive care can help manage symptoms and improve quality of life. Life expectancy may be reduced, depending on the severity of the condition and the presence of complications.

Research and Future Directions

Ongoing research aims to better understand the genetic and molecular mechanisms underlying SCAN2, with the hope of developing targeted therapies. Advances in gene therapy and neuroprotective strategies hold promise for future treatment options.

See Also

• Spinocerebellar ataxia
• Peripheral neuropathy
• Neurodegenerative disorders
• [1] "Spinocerebellar Ataxia with Axonal Neuropathy Type 2." Rare Diseases Database.
• [2] "Genetic and Clinical Aspects of Spinocerebellar Ataxias." Journal of Neurology.

NIH genetic and rare disease info

• NIH info on Spinocerebellar ataxia with axonal neuropathy type 2

Spinocerebellar ataxia with axonal neuropathy type 2 is a rare disease.