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Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This condition may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. [5]
The signs and symptoms of hereditary sensory neuropathy type 1 typically appear during a person's teens or twenties. While the features of this disorder tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated. Type 1 is the most common form among the 5 types of HSAN.
MSA was first described in 1960 by Milton Shy and Glen Drager and was then known as Shy–Drager syndrome. [ 2 ] Many people affected by MSA experience dysfunction of the autonomic nervous system , which commonly manifests as orthostatic hypotension , impotence , loss of sweating , dry mouth and urinary retention and incontinence .
A substantial overlap is seen between syndromes of orthostatic intolerance on the one hand, and either chronic fatigue syndrome or fibromyalgia on the other. [6] It affects more women than men (female-to-male ratio is at least 4:1), usually under the age of 35. [7] OI can also be a symptom of mitochondrial cytopathy. [8]
Life expectancy for those with Down syndrome has increased markedly since 1960 when it was very low. Depending on the severity of accompanying health problems, an individual with Down syndrome can ...
The Centers for Disease Control and Prevention (CDC) reports that more than 1 in 10 Americans have a severe mobility disability that hinders their ability to walk or climb stairs, with many more ...
Pure autonomic failure (PAF) is an uncommon, sporadic neurodegenerative condition marked by a steadily declining autonomic regulation. [3] Bradbury and Eggleston originally described pure autonomic failure in 1925. [4] Patients usually present with orthostatic hypotension or syncope in midlife or later.