Myopathies, Structural, Congenital
| Definition: |
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality. |
| Also Called: |
Centronuclear Myopathy,Congenital Fiber Type Disproportion,Tubular Aggregate Myopathy |
| Previously Indexed: |
Muscular Atrophy (1976-1999),Neuromuscular Diseases (1976-1999) |
Myopathies, Structural, Congenital Categories.
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Myopathies, Nemaline - A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) |
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Myopathy, Central Core - An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452) |
Myopathies, Structural, Congenital Definitions and Terms
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