Ullrich congenital muscular dystrophy
A congenital muscular dystrophy with contractures and joint laxity.
Last updated
Ullrich congenital muscular dystrophy comes in two types: UCMD1 and UCMD2. UCMD1 involves changes in type VI collagen, while UCMD2 involves changes in type XII collagen. Named for Otto Ullrich, who also described Ullrich-Turner syndrome, this condition typically includes contractures, loose joints, muscle weakness, and breathing difficulties, but not heart problems.
Signs and symptoms
Muscle weakness and difficulty walking are present; ambulation is typically lost between ages 5 and 15. Bilateral contractures affect proximal joints of the upper and lower extremities, along with progressive scoliosis and occasional torticollis. Distal joint laxity occurs in wrists, fingers, ankles, and toes. Fatty infiltration of muscle is also observed.
Diagnosis
Follicular hyperkeratosis may be a dermatological indicator. Serum creatine kinase can be mildly above normal. Diagnosis is confirmed through MRI, muscle biopsy, and genetic testing. Overlap phenotypes between Ullrich congenital muscular dystrophy and Bethlem myopathy are recognized; Bethlem myopathy may be considered in the differential diagnosis even without finger contractures.
Did You Know?
- Cyclosporine A might be of benefit to individuals with this CMD type.
- Cyclosporin A used to treat collagen VI muscular dystrophies demonstrates a normalization of mitochondrial reaction to rotenone.
- Respiratory support may require ventilation via a tracheostomy in some cases.
Frequently Asked Questions
What causes Ullrich congenital muscular dystrophy?
Listed causes of Ullrich congenital muscular dystrophy include mutations in the COL6A1, COL6A2, COL6A3 and and COL12A1 gene.
How is Ullrich congenital muscular dystrophy diagnosed?
Diagnosis of Ullrich congenital muscular dystrophy is based on physical exam and Medical history.
More in Myoneural Junction and Neuromuscular Diseases
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Ullrich congenital muscular dystrophy (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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