Polyglucosan body disease, adult

Polyglucosan Body Disease, Adult
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Progressive neurological decline, muscle weakness, cognitive impairment
Complications	N/A
Onset	Adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing, biopsy
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, physical therapy
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Polyglucosan Body Disease, Adult (APBD) is a rare neurological disorder characterized by the accumulation of polyglucosan bodies within the nervous system. This condition primarily affects adults and leads to progressive neurological decline.

Pathophysiology

Polyglucosan bodies are abnormal glycogen-like structures that accumulate in the cells of the nervous system. In APBD, these bodies are primarily found in the central nervous system, including the brain and spinal cord, as well as in peripheral nerves. The accumulation of polyglucosan bodies disrupts normal cellular function, leading to the symptoms observed in the disease.

Genetics

APBD is often caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. This enzyme is crucial for the proper formation of glycogen. Mutations in GBE1 lead to the production of abnormal glycogen, which forms the polyglucosan bodies characteristic of the disease.

Clinical Presentation

The symptoms of APBD typically begin in adulthood, often in the fifth or sixth decade of life. Common symptoms include:

• Progressive muscle weakness
• Difficulty walking (gait disturbances)
• Cognitive impairment
• Urinary incontinence
• Peripheral neuropathy

Diagnosis

Diagnosis of APBD involves a combination of clinical evaluation, genetic testing, and sometimes a nerve or muscle biopsy. Genetic testing can identify mutations in the GBE1 gene, confirming the diagnosis.

Management

There is currently no cure for APBD. Management focuses on supportive care to alleviate symptoms and improve quality of life. This may include:

• Physical therapy to maintain mobility
• Occupational therapy
• Management of urinary symptoms
• Cognitive therapy

Prognosis

The prognosis for individuals with APBD varies. The disease is progressive, and symptoms typically worsen over time. However, the rate of progression can vary significantly between individuals.

Research

Ongoing research is focused on understanding the molecular mechanisms of APBD and developing potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.

Also see

• Glycogen storage disease
• Peripheral neuropathy
• Cognitive impairment
• Neurological disorder

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WikiMD neurology

External links

• Comprehensive information from the National Institute of health.
  

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