Martin-Bell Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Parents who notice that the child has difficulty maintaining body balance and suffers from tremors, in addition to distinctive physical features, should consult the best neurologist in Karachi. The symptoms indicate that the child may be suffering from a genetic condition that affects neurological functioning. The specialist will conduct relevant tests to diagnose the disease and evaluate the severity of the illness. The doctor will guide the caregivers with effective treatment plans, allowing the child to live a healthier life.

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Martin-Bell syndrome is a genetic condition; in which the child suffers from multiple physical and psychological developmental issues, including cognitive impairment. There is no cure available for the disease; however, the advancement in the field of medicine has allowed us to deal with and cope with the symptoms. It helps the patient live a life with minimum risk of further complications. The symptoms of Martin-Bell syndrome are:

  • The caregivers notice a delay in walking and crawling of the child in comparison to other children of the same age.
  • The caregivers notice learning disabilities in the child in the early years.
  • The child is at a higher risk of suffering from ADHD, which affects the social, emotional, cognitive, and academic areas of the individual.
  • The child may suffer from the autism spectrum disorder, which affects communication skills.
  • The caregiver can notice that the child suffers from anxiety and exhibits symptoms of hyperactive behavior such as excessive fidgeting.
  • The caregivers notice tremors and have difficulty coordinating and maintaining body balance.
  • The child has distinctive physical features such as; a long and narrow face, large jawline and forehead, and flat feet.
  • The male child suffering from the condition suffers from m

Causes of Martin-Bell Syndrome

The known causes of the condition include:

  • The condition is a result of a defect in the FMR1 gene. It is responsible for the production of FMRP protein, essential for the development of the nervous system. The lack of protein production causes the person to suffer from Martin-Bell syndrome.
  • Males are at a higher risk of suffering from the syndrome.
  • Individuals with a family history of neurological disorders are at a higher risk of noticing the symptoms of Martin-Bell syndrome in their children.

Complication Correlating to Martin-Bell Syndrome

The complications that correlate with the condition include:

  • The child is at a higher risk of suffering from the recurrent infection, which affects the function of vital organs. It can lead to permanent damage and lower the life expectancy of the patient.
  • The child is at a higher risk of suffering from seizures.


The tests that help in diagnosing the individual with Martin-Bell Syndrome include:

  • Physical Examination: The specialist will check if the child has distinctive physical characteristics that correlate with the disease. Additionally, the specialist will evaluate if the child exhibit signs of delay in cognitive and physical development.
  • DNA Test: The FMR1 DNA test helps check if there are changes in the gene that may have led to the condition.
  • Evaluation of Family History: The family history can help identify the cause and origin of the disease.

Treatment Options

The effective treatment options include:

  • Use of SSRI: The medication helps reduce the symptoms of anxiety and depression.
  • Use of CNS Stimulant: The medication helps improve alertness and energy.
  • Use of Muscle Relaxant: The medication helps reduce the muscle tension that relieves the muscle pain.

Parents who notice their child exhibiting symptoms that indicate neurological problems must visit a specialist. Dr. Khalid Jamil Akhtar is an experienced, competent, and reliable neurologist; who can provide guidance regarding the condition of the patient and effective treatment plan. The treatment can help manage the symptoms and enhance the overall health of the child.

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