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Multiple system atrophy (MSA) is a rare neurodegenerative disorder [1] characterized by tremors, slow movement, muscle rigidity, postural instability (collectively known as parkinsonism), autonomic dysfunction and ataxia.
Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor and non-motor systems. Symptoms typically develop gradually, with non-motor issues becoming more prevalent as the disease progresses.
A positive Pemberton's sign is indicative of superior vena cava syndrome (SVC), commonly the result of a mass in the mediastinum.Although the sign is most commonly described in patients with substernal goiters where the goiter "corks off" the thoracic inlet, [4] the maneuver is potentially useful in any patient with adenopathy, tumor, or fibrosis involving the mediastinum.
Delay in the diagnosis of SMA syndrome can result in fatal catabolysis (advanced malnutrition), dehydration, electrolyte abnormalities, hypokalemia, acute gastric rupture or intestinal perforation (from prolonged mesenteric ischemia), gastric distention, spontaneous upper gastrointestinal bleeding, hypovolemic shock, and aspiration pneumonia.
Alpha-1 antitrypsin deficiency is a genetic risk factor that may lead to the condition presenting earlier. [ 9 ] When associated with significant airflow limitation, emphysema is a major subtype of chronic obstructive pulmonary disease (COPD), a progressive lung disease characterized by long-term breathing problems and poor airflow.
Ankylosing spondylitis (AS) is a systemic rheumatic disease, meaning it affects the entire body. 1–2% of individuals with the HLA-B27 genotype develop the disease. [17] Tumor necrosis factor-alpha (TNF α) and interleukin 1 (IL-1) are also implicated in ankylosing spondylitis. Autoantibodies specific for AS have not been identified.
Take a look at every state ranked by how much each parent is going to spend on each kid this holiday season.
Pathophysiology [ edit ] I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase , which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within cells.