GTR Home > Conditions/Phenotypes > Nemaline myopathy 7

Disease characteristics

Excerpted from the GeneReview: Nemaline Myopathy
Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. Six forms of NM exist, classified by onset and severity of motor and respiratory involvement: Severe congenital (neonatal) (16% of all individuals with NM). Amish NM. Intermediate congenital (20%). Typical congenital (46%) . Childhood-onset (13%). Adult-onset (late-onset) (4%). Considerable overlap occurs among the forms. Significant differences in survival exist between individuals classified as having severe, intermediate, and typical congenital NM. Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita are associated with death in the first year of life. Independent ambulation before age 18 months is predictive of survival. Most children with typical congenital NM are eventually able to walk.

Associated genes

Clinical features

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  • Muscle weakness
  • Areflexia
  • Gowers sign
  • Neck muscle weakness
  • Respiratory insufficiency due to muscle weakness
  • Gait disturbance
  • High palate
  • Muscular hypotonia
  • Joint hypermobility
  • Delayed gross motor development
  • Minicore (multicore) myopathy
  • Nemaline bodies
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