Proximal muscles more affected than distal muscles and lower limbs more. We report a case of type i spinal muscular atro phy sma. Ten years of experience in molecular prenatal diagnosis and carrier testing for spinal muscular atrophy among families from serbia marijana miskovic, tanja lalic, danijela radivojevic, sanja cirkovic,slavica ostojic, marija gucscekic. Atrofia muscular espinal tipo hiramaya o distal juvenil esporadica. Muscular atrophy, spinal bulbospinal neuronopathy kennedy syndrome oculopharyngeal spinal muscular atrophy. Leer mas sobre sintomas, diagnostico, tratamiento, complicaciones, causas y pronostico. Translation and validation of the egen klassifikation 2 scale for the spanish population. Hechos sobre las distrofias musculares poco comunes congenita.
Spinal muscular atrophy sma is an autosomal recessive disorder. Functional assessment for people unable to walk due to spinal muscular atrophy and duchenne muscular dystrophy. Pdf analisis genetico molecular en atrofia muscular espinal. Atrofia muscular espinal distal ligada al cromosoma x tipo 3 orphanet. Ten years of experience in molecular prenatal diagnosis and carrier testing for spinal muscular atrophy among families from serbia marijana miskovic, tanja lalic, danijela radivojevic, sanja cirkovic,slavica ostojic. Lower motor and primary sensory neuron disease with peroneal muscular atrophy. Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord. Atrofia muscular espinal distal tipo 3 neuropatia motora hereditaria distal tipo 3. Atrofia muscular espinal genetic and rare diseases. Atrofia muscular espinal tipo 3 genetic and rare diseases.
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