spinal muscular atrophy…

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superficial anterior muscles, werdnig-hoffmann disease, spinal muscular atrophy, group of inherited diseases that cause progressive muscle degeneration, weakness, eventually death, spinal muscular atrophy, sma, the second leading cause of neuromuscular disease, inherited, an autosomal recessive trait, a person must get the defective gene from both parents to be affected, has an incidence of approximately 4 per 100,000 people, in its most severe form, sma type i, werdnig-hoffman disease, infants, born floppy, weak, thin muscles, feeding, breathing problems, their lifespan seldom exceeds 2 to 3 years, infants, sma type ii have less severe symptoms, early infancy, become progressively weaker, survival time, type ii is longer, the disease kills most of those affected they, still children, sma type iii, least severe form, not appear, second year of life, weakness is first noted, in the shoulder muscles, proximal leg muscles, weakness is progressive, eventually, become profound, children, type iii disease, survive into early adulthood, sma, in adulthood, a milder form, form inherited in an autosomal dominant, one copy, the gene is needed, the disease to occur, autosomal recessive manner, family history of spinal muscular atrophy, risk factor, all types, the disorder, in an infant, floppy infant, very weak infant, little spontaneous movement, lack of head control, feeding difficulty, breathing difficulty, progressive weakness, older infant to toddler, child, nasal speech, worsening posture, frequent, increasingly severe respiratory infections, a family history of neuromuscular disease, absent deep tendon reflexes, flaccid muscles, muscle fasciculation, fasciculation of tongue muscle, elevated cpk levels, muscle biopsy, electromyography, mri, the spine, dna testing to confirm diagnosis, no treatment, the progressive weakness, supportive care is important, attention must be paid, respiratory system, affected people have difficulty clearing secretions, respiratory complications, common, physiotherapy is important, prevent contractures, scoliosis, bracing necessary, most severe form of spinal muscular atrophy is fatal early on, less severe form is compatible, a longer lifespan, progressive weakness, debility, present in all forms, contractures, scoliosis, respiratory infections, aspiration, child appears weak, has difficulty feeding, develops any other symptoms of spinal muscular atrophy, breathing difficulty, rapidly, become an emergency condition, genetic counseling, prospective parents, a family history of spinal muscular atrophy.