Familial dysautonomia

Familial dysautonomia: Description, Causes and Risk Factors:Familial dysautonomiaA congenital syndrome with specific disturbances of the nervous system and aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor in-coordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics; autosomal recessive inheritance and mapped to human chromosome 9q31-q33.Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold.Mutations in the IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. This mutation can disrupt how information in the IKBKAP gene is spliced together to make a blueprint for the production of IKAP protein. As a result of this splicing error, a reduced amount of normal IKAP protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cells — particularly brain cells — have very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.Familial dysautonomia is extremely rare in the general population. The disease is more common in Eastern & Central Europe.Studies in patients with familial dysautonomia have shown that abnormal cardiac autonomic denervation might influence re-polarization. Autonomic tone also affects atrial conduction parameters and P-wave dispersion, which are predictive of atrial fibrillation.Symptoms:Symptoms can include:Decreased tears.
  • Corneal analgesia.
  • Optic atrophy.
  • Dysphagia.
  • Hypotonia.
  • Esophageal dysmotility.
  • Intensive hypoxia.
  • Spinal curvature.
  • Postural hypotension.
  • Excessive sweating.
  • Decreased deep tendon reflexes.
  • Progressive ataxia.
Diagnosis:The diagnosis of familial dysautonomia (FD) is made by confirming the presence of the mutation in the IKBKAP gene.There are several clinical features suggestive of FD the can be identified during medical history taking and a physical examination:Lack of overflow tears with emotional crying.
  • Smooth tongue with an absence of fungiform papillae.
  • Diminished deep tendon reflexes.
  • Muted response to histamine with lack of axon flare.
  • Ashkenazi and Jewish heritage.
Treatment:Presently, there is no cure for this progressive disorder and treatment is aimed at controlling symptoms and avoiding complications. Depending on the patent's needs, the treatment of familial dysautonomia may involve:The management of alacrima and prevention of corneal injuries with eye lubricants, surgery, custom eye protectors and hazard reduction.
  • Management of impaired swallowing reflex with feeding techniques and therapy.
  • Therapeutic management of vomiting “crises”.
  • Improving pulmonary function through respiratory health and hygiene programs.
  • Control of bronchial spasm.
  • Injury avoidance in children with diminished pain and temperature perception.
  • Treatment of blood pressure variability with physical counter maneuvers, volume regulation or drugs that modulate peripheral vascular resistance.
  • Nutritional guidelines.
  • Management of orthopedic issues.
  • Occupational, speech and physical therapy.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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