Genetic Brain Disorders: Causes and Symptoms

Leukodystrophies | Phenylketonuria | Tay-Sachs Disease | Wilson’s Disease

Humans don’t have any control on genetic disorders. Health experts at AMRI Hospitals, one of the best hospitals in Kolkata, explain that these disorders are mainly caused due to variation (different forms of a gene) or mutation (change in a gene).

Genetic brain disorders particularly affect the development and functioning of the brain. They can lead to severe problems that impact the nervous system.

Listed below are some of the most common genetic brain disorders:

Leukodystrophies

A rare genetic brain disorder, Luekodystrophies is characterized by deterioration of the white matter (myelin sheath) in the brain. The damage blocks the message transmission between the brain and the body. This can further lead to a number severe medical conditions, warn doctors at AMRI Hospitals, ranked among the best neurology hospitals in Kolkata.

The symptoms of Luekodystrophies usually appear during infancy. They tend to get more prominent with age. Some of the most common symptoms include:

  • Issues related to memory
  • Inability to speak properly
  • Physical and mental issues
  • Hearing disabilities
  • Problem with movement

The symptoms of Luekodystrophies usually appear during infancy. They tend to get more prominent with age. Some of the most common symptoms include:

  • Issues related to memory
  • Inability to speak properly
  • Physical and mental issues
  • Hearing disabilities
  • Problem with movement

Phenylketonuria

Phenylketonuria is a rare genetic condition characterized by the inability to break down an amino acid called phenylalanine. It is a type of amino acid metabolism disorder. Phenylketonuria results in excessive level of phenylalanine, which can cause severe damage to your brain and result in intellectual disabilities too. Common symptoms include:

  • Hyperactivity
  • Delayed mental and social skills
  • Mental retardation
  • Severe intellectual disabilities
  • Unusual head size
  • Behavioural problems
  • Rashes in skin

Tay-Sachs Disease

A rare inherited disorder that results in building up of a fatty substance in the affected person’s brain. Health experts at AMRI Hospitals explain that it is mainly caused due to the absence of an enzyme, which breaks down fatty substances in the body. People tend to loose muscle control with the progression of this disease. It results in blindness, paralysis and death in majority of the cases. Affected children usually die by the age of four.

The severity of this disease makes it important to keep a check on its symptoms, which include:

  • Gradual decline in mental and physical abilities
  • Seizures
  • Vision loss
  • Weak muscles
  • Problems in movement
  • Red spots in the eyes
  • Unusual reactions when the baby hears loud noises
  • Inability to swallow
  • Paralysis
  • Loss of motor skills, including turning over, crawling and sitting up

Wilson Disease

Also known as Hepatolenticular degeneration and Progressive lenticular degeneration, Wilson Disease is caused due to excessive amount of copper in the body (particularly in the liver, brain and eyes). Though the disorder is present at birth, its symptoms can be seen after the first 5 years of childhood, say medical experts at AMRI Hospitals. Wilson Disease first attacks both the liver as well as the central nervous system. Thus, the symptoms are typically related to the brain and liver.

  • A rusty brown ring around the cornea of the eye
  • Abdominal pain
  • Fatigue
  • Swelling in the liver
  • Kidney stones
  • Low platelet or white blood cell count
  • Blood clotting takes more time than the usual
  • Irregular menstrual cycle
  • Increasing level of amino acids, carbohydrates, protein, and/or uric acid in the urine
Categories
Genetics
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