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Items: 6

1.

BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE

MedGen UID:
864399
Concept ID:
C4015962
Finding
2.

MYOSCLEROSIS, AUTOSOMAL RECESSIVE (1 family)

MedGen UID:
864398
Concept ID:
C4015961
Finding
3.

ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2

MedGen UID:
864397
Concept ID:
C4015960
Finding
4.

ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE

MedGen UID:
864396
Concept ID:
C4015959
Finding
5.

Ullrich congenital muscular dystrophy 1, autosomal dominant

MedGen UID:
864395
Concept ID:
C4015958
Finding
6.

Bethlem myopathy

Collagen type VI-related disorders represent a continuum of overlapping phenotypes with Bethlem myopathy at the mild end, Ullrich congenital muscular dystrophy (CMD) at the severe end, and two rare, less well-defined disorders – autosomal dominant limb-girdle muscular dystrophy and autosomal recessive myosclerosis myopathy – in between. Although Bethlem myopathy and Ullrich CMD were defined long before their molecular basis was known, they remain useful for clarification of prognosis and management. Bethlem myopathy, characterized by the combination of proximal muscle weakness and variable contractures, affects most frequently the long finger flexors, elbows, and ankles. Onset may be prenatal (characterized by decreased fetal movements), neonatal (hypotonia or torticollis), in early childhood (delayed motor milestones, muscle weakness, and contractures), or in adulthood (proximal weakness and Achilles tendon or long finger flexor contractures). Because of slow progression, more than two thirds of affected individuals over age 50 years rely on supportive means for outdoor mobility. Respiratory involvement is rare and appears to be related to more severe muscle weakness in later life. Ullrich CMD is characterized by congenital weakness and hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Some affected children acquire the ability to walk independently; however, progression of the disease often results in later loss of ambulation. Early and severe respiratory involvement may require ventilatory support in the first or second decade of life. [from GeneReviews]

MedGen UID:
331805
Concept ID:
C1834674
Disease or Syndrome
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