Terms in this set (29)

Riley-Day syndrome and hereditary sensory and autonomic neuropathy type III (HSAN-III) — is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, inappropriate perception of heat, pain, and taste, as well as unstable blood pressure and gastrointestinal dysmotility. FD does not affect intelligence. Originally reported by Conrad Milton Riley and Richard Lawrence Day in 1949, FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies (HSAN). All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. Familial dysautonomia is the result of mutations in IKBKAP gene on chromosome 9, which encodes for the IKAP protein (IkB kinase complex associated protein).

The most distinctive clinical feature is absence of overflow tears with emotional crying after age 7 months. This symptom can manifest less dramatically as persistent bilateral eye irritation. There is also a high prevalence of breech presentation. Other symptoms include weak or absent suck and poor tone, poor suck and misdirected swallowing, and red blotching of skin.

Symptoms in an older child with familial dysautonomia might include:

Delayed speech and walking
Unsteady gait
Spinal curvature
Corneal abrasion
Less perception in pain or temperature with nervous system.
Poor growth
Erratic or unstable blood pressure.
Red puffy hands
Dysautonomia crisis: constellation of symptoms response to physical and emotional stress; usually accompanied by vomiting, increased heart rate, increase in blood pressure, sweating, drooling, blotching of the skin and a negative change in personality.
Demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to communicate, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. No cure. Steroids and immunosuppressive drugs used to manage.

Pain areas: in the back or eyes
Pain circumstances: can occur in the back due to head nod or with eye movement
Tremor: can occur during precise movements, in the hands, or limbs
Muscular: cramping, difficulty walking, inability to rapidly change motions, involuntary movements, muscle paralysis, muscle rigidity, muscle weakness, problems with coordination, stiff muscles, clumsiness, muscle spasms, or overactive reflexes
Whole body: fatigue, dizziness, heat intolerance, poor balance, vertigo, or weakness
Urinary: excessive urination at night, leaking of urine, persistent urge to urinate, or urinary retention
Sensory: pins and needles, abnormality of taste, or uncomfortable tingling and burning
Visual: blurred vision, double vision, or vision loss
Sexual: erectile dysfunction or sexual dysfunction
Mood: anxiety or mood swings
Speech: slurred speech or impaired voice
Also common: acute episodes, constipation, depression, difficulty swallowing, difficulty thinking and understanding, headache, heavy legs, numbness, numbness of face, rapid involuntary eye movement, sleep deprivation, tongue numbness, or difficulty raising the foot

Cause unknown.
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