Adult polyglucosan body disease
Adult polyglucosan body disease (pronunciation: /əˈdʌlt ˌpɒliːˈgluːkəˌsæn ˈbɒdiː dɪˈziːz/) is a rare, often late-onset, genetic disorder characterized by the accumulation of abnormal structures known as polyglucosan bodies in the body's cells.
Etymology
The term "Adult polyglucosan body disease" is derived from the age of onset (adult), the primary pathological feature of the disease (polyglucosan bodies), and the nature of the condition (disease).
Symptoms
The symptoms of Adult polyglucosan body disease can vary widely among affected individuals. Common symptoms include neurogenic bladder, gait disturbance, and spasticity.
Causes
Adult polyglucosan body disease is caused by mutations in the GBE1 gene. This gene provides instructions for making an enzyme called glycogen branching enzyme, which is involved in the formation of glycogen, a major source of stored energy in the body.
Diagnosis
Diagnosis of Adult polyglucosan body disease is often made through a combination of clinical examination, genetic testing, and biopsy of affected tissues.
Treatment
There is currently no cure for Adult polyglucosan body disease. Treatment is symptomatic and supportive, and may include physical therapy, medications to manage symptoms, and regular monitoring of disease progression.
See also
References
External links
- Medical encyclopedia article on Adult polyglucosan body disease
- Wikipedia's article - Adult polyglucosan body disease
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