FAMILIAL DYSAUTONOMIA Meaning and
Definition
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Familial Dysautonomia (FD), also known as Riley-Day syndrome or hereditary sensory and autonomic neuropathy type III (HSAN-III), is a rare genetic disorder that affects the autonomic and sensory nervous systems. It is characterized by various abnormalities and dysfunction of the autonomic nervous system, which controls involuntary bodily functions, such as blood pressure regulation, digestion, and temperature regulation.
FD is inherited in an autosomal recessive pattern, meaning that both copies of the gene responsible for the disorder need to be mutated for an individual to develop the condition. The disorder primarily affects individuals of Ashkenazi Jewish descent, with a higher prevalence rate within this population.
Symptoms of FD usually manifest within the first few months of life and may include feeding difficulties, poor growth, lack of tears, lack of reaction to painful stimuli, unstable blood pressure and heart rate, breathing difficulties, gastrointestinal problems, and abnormal sweating. Individuals with FD may also experience delayed development and have an increased risk for certain medical complications, such as aspiration pneumonia and spinal curvature.
There is currently no cure for FD, and treatment primarily focuses on managing symptoms and improving quality of life. This may involve a multidisciplinary approach comprising of various medical specialists, such as pulmonologists, gastroenterologists, and orthopedic surgeons. Supportive therapies such as physical therapy, respiratory treatments, and medications may be utilized to alleviate specific symptoms and prevent complications.
Overall, Familial Dysautonomia is a complex genetic disorder that affects the autonomic and sensory nervous systems, leading to various physiological abnormalities and challenges in everyday life.
Common Misspellings for FAMILIAL DYSAUTONOMIA
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Etymology of FAMILIAL DYSAUTONOMIA
The word "Familial Dysautonomia" has the following etymology:
- "Familial" is derived from the Latin word "familiālis", which means "pertaining to a household" or "of a family". It is derived from the Latin word "famulus", meaning "servant" or "member of the household".
- "Dysautonomia" is derived from the Greek words "dys", meaning "abnormal" or "impaired", and "autonomia", meaning "autonomy" or "self-governance". In medical terminology, "dysautonomia" refers to a condition in which the autonomic nervous system, responsible for regulating involuntary bodily functions, does not function properly.
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