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Niemann-Pick Disease: Indications, Diagnosis, and Effective Treatment Options

Individuals who exhibit symptoms such as seizures, sleep disturbance, and speech difficulty are more likely to suffer from a neurological condition. Hence, it is essential to visit the best neurologist in Lahore. The specialist will conduct various tests to diagnose the cause and severity of the disease. It allows the patient to manage the symptoms and lead a healthier life.

Niemann-pick is an inherited condition in which there is an abnormal accumulation of lipids in the cells. Due to excessive lipid buildup, there is a hindrance in the functioning of the organs. There is no cure available; however, treatment can help manage the symptoms.

What are the symptoms of Niemann-pick disease?

The symptoms include:

  • The individual diagnosed with the Niemann pick disease suffer from dystonia. The person has abnormal posture due to muscle contractions.
  • The person struggles to move eyes.
  • The patient suffers from constant abdominal pain.
  • The patient suffers from sleep disorders.
  • The patient suffers from seizures and related complications.
  • The individual has speech difficulties.
  • The patient cannot walk properly due to coordination problems.
  • The individual struggles in learning and has constant cognitive decline.
  • The individual suffers from loss of motor skills.
  • The patient struggles in swallowing food.
  • The patient loses appetites which contribute to further complications.
  • The patient has an enlarged spleen and liver, which lead to further physical problems.
  • Due to splenomegaly, the patient suffers from thrombocytopenia. Without timely treatment, it can be life-threatening. If the platelets fall below ten thousand platelets per microliter, it can lead to internal bleeding.

What are the known causes of Niemann-pick disease?

The known causes of Niemann-pick disease include:

  • The genetic mutation causes abnormality in the production of the enzyme. Sphingomyelinase is the enzyme responsible for the breakdown of sphingomyelin. However, if the gene mutation causes hindrance in the enzyme production, the person suffers from excessive lipid accumulation in the cells.
  • The abnormality in the enzyme production causes damage to the cells.
  • The person suffers from the condition when both parents transfer the defective gene.

What are the complications associated with the condition?

The complications associated with the condition are:

  • The patient suffers from multiple hepatic and lung diseases, which can be life-threatening.
  • The patient is more likely to suffer from cognitive impairment. It can lead to social and emotional distress, and the person is more likely to have psychological disorders.
  • The patient is more likely to suffer from vision problems. It may lead to permanent blindness.

What tests help diagnose the disease?

The tests that assist in diagnosis include:

  • Physical Examination and Family History: The specialist will conduct a thorough physical examination to check if the person has a problem in body coordination. Additionally, the specialist will question regarding the family history to confirm the diagnosis.
  • Biopsy: The blood and skin cells are tested to evaluate levels of sphingomyelinase.
  • Genetic Testing: The test helps determine the gene mutation that has led the patient to suffer from the condition.
  • Prenatal Test: If there is a history of Niemann-pick disease in the family, the test helps detect if the child may suffer from it during the pregnancy.

What are the effective treatment options?

The treatment options proven effective are:

  • Use of Anti-Consultants: The medicine helps control seizures and related symptoms.
  • Use of Anticholinergics: If the person exhibits symptoms of dystonia, the medication helps manage the condition.
  • Use of Enzyme Inhibitor: The medication blocks the synthesis of glycosphingolipids.
  • Use of Statins: The medicine helps maintain lipids in the body to reduce the correlated problems.
  • Physical and Speech Therapy: The therapy helps the patient communicate better with others and function adequately in their everyday life.

People diagnosed with the condition must consult the neurologist in Surgimed Hospital. The specialist will help in early diagnosis and control the correlated problems. It will help the patient have better physical and psychological health, which would allow them to function adequately.