Hereditary CNS demyelinating disease

Hereditary CNS demyelinating diseases are a group of inherited disorders that affect the central nervous system (CNS) by causing damage to the myelin sheath, the protective covering that surrounds nerve fibers. This demyelination disrupts the normal transmission of electrical impulses along the nerves, leading to various neurological symptoms.

Types

There are several types of hereditary CNS demyelinating diseases, including:

• Adrenoleukodystrophy
• Metachromatic leukodystrophy
• Pelizaeus-Merzbacher disease
• Canavan disease
• Krabbe disease

Symptoms

The symptoms of hereditary CNS demyelinating diseases can vary widely depending on the specific disorder and the age of onset. Common symptoms include:

• Muscle weakness
• Vision problems
• Coordination issues
• Cognitive decline
• Seizures

Causes

These diseases are caused by genetic mutations that are often inherited in an autosomal recessive or X-linked manner. The specific genes involved vary by disorder, but they generally affect the production or maintenance of myelin.

Diagnosis

Diagnosis typically involves a combination of:

• Magnetic resonance imaging (MRI) to detect areas of demyelination
• Genetic testing to identify specific mutations
• Blood tests and urine tests to detect metabolic abnormalities

Treatment

There is currently no cure for hereditary CNS demyelinating diseases. Treatment focuses on managing symptoms and may include:

• Physical therapy to maintain muscle strength and coordination
• Occupational therapy to assist with daily activities
• Medications to control symptoms such as seizures or muscle spasticity

Prognosis

The prognosis for individuals with hereditary CNS demyelinating diseases varies widely depending on the specific disorder and the severity of symptoms. Some individuals may have a relatively normal lifespan with mild symptoms, while others may experience severe disability and a shortened lifespan.

Related Pages

• Central nervous system
• Myelin
• Genetic disorder
• Neurology
• Adrenoleukodystrophy
• Metachromatic leukodystrophy
• Pelizaeus-Merzbacher disease
• Canavan disease
• Krabbe disease