Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Post-polio syndrome (PPS) is the term used for the new late manifestations that occur in patients 30 to 40 years after the occurrence of acute poliomyelitis. PPS has been recognized for over 100 years, but is more common at the present time because of the large epidemics of poliomyelitis in the 1940s and 1950s. PPS is manifested by neurologic, musculoskeletal, and general manifestations. Neurologic manifestations include new weakness, muscle atrophy, dysphagia, dysphonia, and respiratory failure. Musculoskeletal manifestations include muscle pain, joint pain, spinal spondylosis and scoliosis, and secondary root and peripheral nerve compression. General manifestations include generalized fatigue and cold intolerance. New muscle weakness of a mild-to-moderate degree responds well to a nonfatiguing exercise program and pacing of activity with rest periods to avoid muscle overuse. Generalized fatigue may be treated with energy conservation and weight loss programs and lower extremity orthoses. Pharmacologic agents also may be helpful, but have not been beneficial in controlled trials. Bulbar muscle weakness includes dysphagia, dysphonia, sleep disorders, and chronic respiratory failure. Dysphagia may be improved with instruction on compensatory swallowing techniques. Dysphonia is treated with voice exercise therapy and voice amplification devices. Sleep disorders are treated similarly to sleep disorders in non-PPS patients. Respiratory failure may be treated with continuous positive airway pressure, bilevel positive airway pressure, and nasal ventilation, or tracheotomy and permanent ventilation if necessary. Musculoskeletal (muscle and joint) pain is treated with weight loss, pacing of activities, use of assistive devices, and prescribing anti-inflammatory medications and physical therapy techniques. Cardiopulmonary conditioning can be improved without muscle overuse with cycle or arm ergometer exercise or dynamic aquatic exercise.
 ...
PMID:Post-Polio Syndrome. 1475 41

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA), after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA), after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances) occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.
...
PMID:Very late-onset friedreich ataxia with laryngeal dystonia. 2568 37