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Items: 6

1.

MYOPATHY, SCAPULOHUMEROPERONEAL (1 family)

MedGen UID:
901202
Concept ID:
C4225648
Finding
2.

Actin accumulation myopathy

An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. [from NCI]

MedGen UID:
777997
Concept ID:
C3711389
Disease or Syndrome
3.

Myopathy, actin, congenital, with cores

MedGen UID:
412982
Concept ID:
C2750537
Disease or Syndrome
4.

Nemaline Myopathy 3, With Intranuclear Rods

MedGen UID:
412981
Concept ID:
C2750536
Disease or Syndrome
5.

Myopathy, actin, congenital, with excess of thin myofilaments

MedGen UID:
322393
Concept ID:
C1834339
Disease or Syndrome
6.

Congenital myopathy with fiber type disproportion

Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe generalized muscle weakness at birth or within the first year of life. Although some individuals remain non-ambulatory throughout life, many eventually develop the ability to walk. In more than 90% of affected individuals, muscle weakness is static or improves; in the remainder it is usually slowly progressive. Mild-to-severe respiratory involvement is seen in approximately 30% of affected individuals; respiratory failure may occur at any age. Ophthalmoplegia, ptosis, and facial and/or bulbar weakness with severe limb/respiratory weakness may predict a poor prognosis. Mild-to-severe feeding difficulties occur in nearly 30% of children. Contractures of the hips, knees, ankles, elbows, and fingers occur in approximately 25% and may be present at birth or occur in older persons with decreased mobility secondary to severe weakness. Spinal deformities including scoliosis, kyphoscoliosis, and lordosis are seen in 25% or more of individuals. [from GTR]

MedGen UID:
108177
Concept ID:
C0546264
Congenital Abnormality
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