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Items: 4

1.

Myopathy, actin, congenital, with cores

MedGen UID:
412982
Concept ID:
C2750537
Disease or Syndrome
2.

Nemaline Myopathy 3, With Intranuclear Rods

MedGen UID:
412981
Concept ID:
C2750536
Disease or Syndrome
3.

Nemaline myopathy 3

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. 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. [from GeneReviews]

MedGen UID:
371799
Concept ID:
C1834336
Disease or Syndrome
4.

Myopathy, actin, congenital, with excess of thin myofilaments

MedGen UID:
322393
Concept ID:
C1834339
Disease or Syndrome
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