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SANDHOFF DISEASE in Nepal

SANDHOFF DISEASE

Sandhoff disease is a rare genetic condition that usually appears in infants. Lack of an enzyme called beta-hexosaminidase causes toxic levels of fat in the brain and spinal cord nerve cells. Sandhoff disease causes problems in muscles, organs and development, usually leading to death in early childhood.

CAUSES SANDHOFF DISEASE

Mutations in the HEXB gene cause Sandhoff disease. Because of the mutations, the body doesn’t make enough beta-hexosaminidase. Without beta-hexosaminidase, the body can’t break down certain fats. The fats reach toxic levels, particularly in the nerve cells in the brain and spinal cord.

SYMPTOMS OF SANDHOFF DISEASE

The classic form of Sandhoff disease occurs in infants. They appear to be healthy at birth but begin to show symptoms around 3 to 6 months of age. Signs may include:

  • Abnormal bone development.
  • Awkward movements.
  • “Cherry-red” spots on the eyeballs.
  • Enlarged head (macrocephaly) or enlarged internal organs (organomegaly), particularly the liver and spleen.
  • Exaggerated reactions to loud noises (startle response).
  • Frequent respiratory (breathing) infections.
  • Slow development in motor skills, such as crawling, sitting up and rolling over.
  • Weak muscles, trouble controlling muscles (ataxia) or muscle twitches (myoclonus).

As Sandhoff disease gets worse, babies usually experience:

  • Hearing loss.
  • Intellectual disabilities.
  • Paralysis.
  • Seizures.
  • Vision loss.
  • Early death.

Even more rarely, some people develop Sandhoff disease later, in childhood or adulthood. The symptoms are usually similar but less severe.

HOMOEOPATHIC APPROACH

Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When  is concerned there are many effective medicines available in Homoeopathy , but the selection depends upon the individuality of the patient , considering mental and physical symptoms

Few homoeopathic medicine can be thought of in the treatment of Sandhoff disease are:

crocus sat, cicuta vir, bufo rana., artemisea vulg., stramonium, etc.