Alper’s Disease: Symptom, Treatment

Overview

Alper’s disease, also called Alpers-Huttenlocher syndrome (AHS) and progressive infantile poliodystrophy, is a neurological condition which leads to the degeneration of the central nervous system, especially degeneration of the gray matter.

Alper’s disease is generally caused by the depletion of the mitochondrial DNA which occurs due to the mutation in the mitochondrial DNA polymerase POLG gene.


Symptoms

Symptoms which mark the onset of Alper’s syndrome are as follows:

  • Loss of cognitive functioning or dementia
  • Vision impairment
  • Difficulty in proper functioning of heart
  • Seizures which can be convulsions as well as epileptic
  • Severe liver disorders including cirrhosis and jaundice
  • Digestive system impairment
  • Spasticity or enlarged muscle tone with enhanced reflexes


Complications

The complications associated with Alper’s disease are usually quite serious. Examples of these complications are:

  • Epileptic fits
  • Severe brain damage
  • Loss of vision because of damaged optic nerve
  • Liver failure
  • Cardiorespiratory system failure


Diagnosis

Common diagnostic procedures include:

  • Medical History Assessment: The clinical analysis is usually conducted to obtain a detailed medical history as well as to evaluate physical fitness.
  • Electroencephalography (EEG): It is performed to study the electrical impulses within the brain. The electrical activity of the brain is abnormal in cases of Alper’s disease because of the presence of seizures.
  • Brain Scans: They are used to study the extent of degeneration presenting in the cerebral cortex as well as other parts of the brain.
  • Audiogram: It is conducted to check for the impairment of hearing ability.
  • Electrocardiogram (ECG): It is conducted to rule out the possibility of cardiomyopathy.
  • Liver Function Tests: These tests include the checking for coagulation, alanine aminotransferase, bilirubin as well as ammonia and glucose levels to check for the extent of liver damage
  • Ultrasound: It is done to check for the abnormalities in liver for patients with Alper’s disease.


Treatments

Common treatments for Alper’s disease usually include prescribed medications and physiotherapy.

  • Prescribed Medications:

Examples of prescribed medications are sedative medications and anticonvulsants. Sedative medications are prescribed to treat anxiety and discomfort. Anticonvulsants are prescribed to treat seizures if sedative medication fails to provide the required relief.

  • Physiotherapy:

It is suggested to relieve the effect of spasticity and to help in seating posture and exercising of limbs.


Keywords: Alper’s disease; Alpers-Huttenlocher syndrome; AHS; progressive infantile poliodystrophy.


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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.