Familial Dysautonomia (FD)

Familial Dysautonomia (FD), also known as Riley-Day syndrome, is a rare genetic disorder that affects the autonomic nervous system. This condition primarily affects people of Ashkenazi Jewish descent, with a higher prevalence in individuals of Eastern European Jewish ancestry.

Symptoms

FD is characterized by a wide range of symptoms that mainly involve dysfunction of the autonomic nervous system, responsible for regulating involuntary bodily functions. Common symptoms include:

• Unstable blood pressure
• Episodic vomiting and feeding difficulties in infancy
• Difficulty controlling body temperature
• Reduced ability to produce tears
• Lack of overflow tears and saliva
• Decreased sensitivity to pain and temperature
• Delayed developmental milestones
• Poor muscle tone (hypotonia)
• Recurrent pneumonia and respiratory problems

Cause

FD is caused by mutations in the IKBKAP gene, which is responsible for producing a protein called I-kappa-B kinase complex-associated protein (IKAP). The exact role of IKAP is not fully understood, but it is believed to play a crucial role in the development and function of sensory and autonomic neurons.

Inheritance

FD follows an autosomal recessive pattern of inheritance. This means that for an individual to be affected by FD, they must inherit two copies of the mutated IKBKAP gene – one from each parent, who are typically carriers of the disorder.

Treatment

Currently, there is no cure for FD. Treatment primarily focuses on managing the symptoms and improving the individual’s quality of life. Various therapies, medications, and interventions may be recommended to address specific symptoms and complications associated with FD.

It is crucial for individuals with FD to receive comprehensive medical care and support from a multidisciplinary team, including neurologists, pulmonologists, gastroenterologists, and other specialists, to effectively manage the condition.