Benign Samaritan congenital myopathy

Engelsk navn: Benign Samaritan congenital myopathy


Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Fra Orphanet

ORPHA: 324581
Klassifiseringsnivå: Disorder
ICD-10: G71.2

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