Pelizaeus–Merzbacher disease, recessive, acute infantile

Pelizaeus-Merzbacher Disease, Recessive, Acute Infantile (PMRD) is a rare genetic disorder that affects the central nervous system. It is a subtype of Pelizaeus-Merzbacher Disease (PMD), which is characterized by the disruption of myelin, the protective covering of nerve fibers in the brain. The recessive, acute infantile form of PMD is particularly severe and progresses rapidly.

Symptoms

The symptoms of Pelizaeus-Merzbacher Disease, Recessive, Acute Infantile, typically manifest within the first few months of life. These symptoms may include:

• Nystagmus - involuntary eye movements
• Hypotonia - reduced muscle tone
• Motor skill delays
• Cognitive impairment
• Seizures

As the disease progresses, affected individuals may experience severe neurological deterioration, leading to significant physical and intellectual disabilities.

Causes

Pelizaeus-Merzbacher Disease, Recessive, Acute Infantile, is caused by mutations in the PLP1 gene. This gene is crucial for the normal formation of myelin. In the recessive form of PMD, both copies of the PLP1 gene (one inherited from each parent) must be altered for a child to be affected. This differs from the more common X-linked form of PMD, where a single mutation in the PLP1 gene on the X chromosome can cause the disease.

Diagnosis

Diagnosis of Pelizaeus-Merzbacher Disease, Recessive, Acute Infantile, is based on clinical evaluation, Magnetic Resonance Imaging (MRI) of the brain, and genetic testing. MRI findings typically show evidence of delayed or abnormal myelination. Genetic testing can confirm the presence of mutations in the PLP1 gene.

Treatment

There is no cure for Pelizaeus-Merzbacher Disease, Recessive, Acute Infantile. Treatment focuses on managing symptoms and improving the quality of life for affected individuals. This may include:

• Physical therapy to improve motor skills
• Medications to control seizures
• Nutritional support
• Supportive care for respiratory problems

Prognosis

The prognosis for individuals with Pelizaeus-Merzbacher Disease, Recessive, Acute Infantile, is generally poor due to the rapid progression of the disease. Most affected children experience significant developmental delays and may have a shortened lifespan.

Research

Research efforts are ongoing to better understand Pelizaeus-Merzbacher Disease and to find effective treatments. These include studies on gene therapy, which aims to correct the underlying genetic mutations, and therapies to promote myelin repair.

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