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Best disease is inherited in an autosomal dominant pattern, [3] which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. The inheritance pattern of adult-onset vitelliform macular dystrophy is definitively autosomal dominant. [2]
Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.
Motor neuron diseases affect both children and adults. [5] While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness . [ 6 ] Most of these diseases seem to occur randomly without known causes, but some forms are inherited. [ 2 ]
The major goal of physical medicine and rehabilitation treatment is to help a person function optimally within the limitations placed upon them by a disabling impairment or disease process for which there is no known cure. The emphasis is not on the full restoration to the premorbid level of function, but rather the optimization of the quality ...
Treatment Improvement Protocols (TIPs) are a series of best-practice manuals for the treatment of substance use and other related disorders. The TIP series is published by the Substance Abuse and Mental Health Services Administration (SAMHSA), an operational division of the U.S. Department of Health and Human Services .
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Macrophage activation syndrome is a severe, potentially life-threatening, complication of several chronic rheumatic diseases of childhood. It occurs most commonly with systemic-onset juvenile idiopathic arthritis (SoJIA).
Patients diagnosed with porencephaly display a variety of symptoms, from mild to severe effects on the patient. Patients with severe cases of porencephaly have epileptic seizures and developmental delays, whereas patients with a mild case of porencephaly display little to no seizures and typical neurodevelopment.