Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present clinical and pathologic data on four previously unreported familial ALS pedigrees and review and analyze by descriptive and exploratory statistical techniques all published cases of familial ALS (1850-1989). In contrast to the age-dependent incidence of sporadic ALS, the age of onset of familial ALS is normally distributed about a mean of 45.7 years (std. dev. 11.3 years). Survival curves for the familial ALS data also demonstrate a skewed distribution with a median survival time of 24 months with 74% surviving at 12 months, 48% at 24 months and 23% surviving at 60 months. The patient characteristics of age at onset of disease, sex and focus of disease onset are unrelated variables and age at onset of disease is the only predictor of survival (Cox's proportional hazard model, chi-square 14.74, p = 0.0001). By applying accelerated failure time models with a log-normal baseline distribution, estimated probabilities for survival adjusted by age at onset were calculated. It was found that the older the age at disease onset, the shorter the survival.
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PMID:Familial amyotrophic lateral sclerosis, 1850-1989: a statistical analysis of the world literature. 203 15

The authors have shown in a recent paper that survival with amyotrophic lateral sclerosis (ALS) can be increased by the use of non-invasive methods of assisted ventilation (Bipap). However, the progression of muscle weakness was not affected and the quality of life was not positively enhanced. In ALS, reduced physical activity may partially be secondary to alveolar hypoventilation syndrome. This leads to deconditioning of ALS/motor neuron disease (ALS/MND) patients. The authors decided to investigate the possibility of reducing motor decline by exercising these patients to the anaerobic threshold, but simultaneously compensating the respiratory insufficiency with the Bipap STD. We conducted a controlled single blind study, exercising eight consecutive ALS/MND patients and used a control group of 12 ALS/MND patients. The patients were all evaluated during a 1 year period. Respiratory function tests (RFT) were performed at entry and then at 6 month intervals. Barthel, Functional Independent Mobility scale (FIM) and Spinal and Bulbar Norris scores were recorded every 3 months. There was a significant difference between the two groups with respect to FIM scores (P<0.03), but not Barthel scores (P<0.8). A slower clinical course (Spinal Norris score P<0.02) and a significant difference in the slope of the RFT (P<0.008) were observed in the treated group, suggesting that exercise may be beneficial in ALS patients once Bipap is used to control peripheral and muscle oxygenation.
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PMID:Can amyotrophic lateral sclerosis patients with respiratory insufficiency exercise? 1054 10

Intermittent non-invasive home ventilation is expected to improve the quality of life, but progression of underlying neuromuscular diseases may lead to a deterioration. We observed after 82-1085 days of such home mechanical ventilation (7 patients with muscular dystrophy (age [mean/std.) 33 +/- 15 years), 8 patients with amyotrophic lateral sclerosis (ALS. age 60 +/- 8 years) a nonsignificant decrease of vital capacity (1.6 +/- 0.4 rp. 1.2 +/- 0.4 l) and an improvement of hypercapnia (49.3 +/- 8.5 rp. 43 +/- 18.5 mmHg). Quality of life (SF-36, Medical Outcomes Trust, Boston, USA) increased significantly only for mental health in patients with ALS (55 +/- 13 rp. 64 +/- 17%). Despite progression of the underlying disease the quality of life remained stable under home mechanical ventilation and mental health improved.
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PMID:[Intermittent assisted ventilation in neuromuscular diseases: course and quality of life]. 1061 50