disease: Nemaline myopathy 2

nameNemaline myopathy 2
descriptionNemaline 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. The clinical classification defines six forms of NM, which are 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. There are significant differences in survival 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.
variant-disease NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) AND Nemaline myopathy 2
NM_001271208.2(NEB):c.7431+1919_7536+374del AND Nemaline myopathy 2
NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer) AND Nemaline myopathy 2
NM_001271208.2(NEB):c.7864G>A (p.Val2622Met) AND Nemaline myopathy 2
NM_001271208.2(NEB):c.17919G>C (p.Lys5973Asn) AND Nemaline myopathy 2
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