Azorean disease

Azorean Disease: Description, Causes and Risk Factors:Azorean diseaseA rare form of hereditary ataxia, characterized by onset in early adult life of progressive, spinocerebellar and extrapyramidal disease with external ophthalmoplegia, rigidity dystonia, found predominantly in people of Azorean ancestry.Alternative Names: Machado-Joseph disease, Portuguese-Azorean disease, spinocerebellar ataxia, striatonigral degeneration, autosomal dominant.As a genetic condition, found primarily in individuals of Portuguese descent, Azorean disease attributes to a marked deterioration of the central nervous system. Azorean disease leads to life impacting visual disorders and can impair brain function in addition to the physical impairment involving muscle movement. The age of onset varies with some individuals and, the earlier in age the Azorean symptoms present, the more severe the progression of the disease. The prevalence of the disease is highest among people of Portuguese/Azorean descent. This disease belongs to a class of genetic disorder called triplet repeat disease.The gene associated with this disease is located on the long arm of chromosome 14q32. The gene produces a mutated protein called ataxin-3. The mutant gene has an increased number of CAG repeats, which can range from 40 to more than 200, the result in an unstable, expanded, disease-causing allele. In contrast, the mutant ataxin-3 protein is localizes within the nucleus of neuronal cells. The mutant protein accumulates in affected cells and forms intra-nuclear inclusion bodies, which are insoluble spheres located in the nucleus of the cell. The spheres interfere with the normal operation of the nucleus and cause the cell to degenerate and die. The cell degeneration and death occurs in the hindbrain, which includes the cerebellum, brainstem, and upper spinal cord, thus leading to deficits in movement.Symptoms:Azorean disease is an inherited disorder that causes impaired brain functioning, vision problems, and loss of muscle control. It is a progressive disease, so the symptoms gets worse with time.Some common symptoms include:Numbness, tingling, and cramps.
  • Pain in the hands, feet, arms, and legs.
  • Muscle spasm.
  • Muscle twitching.
  • Loss of muscle tissue.
  • Difficulty walking.
  • Abnormal reflexes.
  • Frequent urination.
  • Impaired balance and coordination.
  • Difficulty swallowing.
  • Tongue fasciculations.
  • Double vision.
  • Blurred vision.
  • Cold intolerance.
  • Nocturia.
Diagnosis:The diagnosis is made by recognizing and identifying typical symptoms of the disease. It is also based upon the detail family history.Genetic Testing: In patients with positive FH (Family History), genetic testing is the most efficient and definitive way to make the diagnosis.Neuroimaging with MRI or CT scan often reveals cerebellar atrophy.The Azorean disease commonly presents as Parkinson's disease, many healthcare professionals will opt to run tests to rule out Parkinson's disease as a related factor.Treatment:The disease is incurable. Treatments do exist, however, for some symptoms of the disease. Levodopa therapy can be helpful for patients with parkinsonian features. Antispasmodic drugs, such as baclofen, can help reduce spasticity. Medication can be used to treat other problems, such as sleep disturbances, cramps, and urinary dysfunction. Speech therapy can aide in the treatment of dysarthria and dysphagia. Prism glasses can reduce blurry vision or double vision. Eye surgery can be beneficial, but only in the short-term due to the progressive degeneration of eye muscles. Physiotherapy can help patients cope with disability associated with gait problems. Physical aids, such as walkers and wheelchairs, can be used to assist patients with everyday activities.Disclaimer: The following tests, drugs and medications, surgical procedures are in some way related to, or used in the treatment. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care. 


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