Autosomal recessive distal spinal muscular atrophy 1
Encyclopedia
Autosomal recessive distal spinal muscular atrophy 1 (or spinal muscular atrophy with respiratory distress type 1, or distal spinal muscular atrophy 1) is a form of spinal muscular atrophy
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It is characterized by intrauterine growth retardation, often premature birth, foot deformity, and a characteristic pattern of breathing (the stomach draws inward with inspiration) that indicates weakness of the diaphragm; in classic SMA type 1 the diaphragm is strong and the stomach prominently protrudes with inspiration (paradoxic breathing pattern).
It is associated with IGHMBP2
.
Spinal muscular atrophy
Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
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It is characterized by intrauterine growth retardation, often premature birth, foot deformity, and a characteristic pattern of breathing (the stomach draws inward with inspiration) that indicates weakness of the diaphragm; in classic SMA type 1 the diaphragm is strong and the stomach prominently protrudes with inspiration (paradoxic breathing pattern).
It is associated with IGHMBP2
IGHMBP2
DNA-binding protein SMUBP-2 is a protein that in humans is encoded by the IGHMBP2 gene.-Further reading:...
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