Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Muscular Diseases > Myopathies, Structural, Congenital Terms and Definitions




Myopathies, Structural, Congenital

Medical 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.
Canadian Medical Guide Definition 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)
Canadian Medical Guide Definition 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 Medical Definitions and Terms

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