Ullrich congenital muscular dystrophy
| Ullrich congenital muscular dystrophy | |
|---|---|
Autosomal recessive pattern
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 254090 |
| DiseasesDB | 33679 |
| Patient UK | Ullrich congenital muscular dystrophy |
| GeneReviews | |
Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD.[1][2]
Contents
Signs/symptoms
The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:[3]
- Muscle weakness
- Difficulty walking
- Contractures (neck)
- Joint looseness
Genetics
In terms of the genetics of Ullrich congenital muscular dystrophy,there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is autosomal recessive in nature.[4][5]
COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein.[6]
Diagnosis
In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator,additionally also serum creatine kinase may be mildly above normal.[2] Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:[medical citation needed]
Treatment
Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching. Respiratory support may be needed at some point by the affected individual.[7]
Though cardiac complications are not a concern in this type of CMD, in regards to respiratory issues ventilation via a tracheostomy is a possibility in some cases.[2][8]
Prognosis
The prognosis of this sub-type of MD indicates that the affected individual may eventually have feeding difficulties. Surgery, at some point, might be an option for scoliosis.[7]
Scoliosis which is a sideways curve of the persons vertebrate, is determined by a variety of factors, including the degree (mild or severe), in which case if possible a brace might be used by the individual[9]
Research
In terms of possible research for Ullrich congenital muscular dystrophy one source indicates that cyclosporine A might be of benefit to individuals with this CMD type.[10]
According to a review by Bernardi, et al, cyclosporin A (CsA) used to treat collagen VI muscular dystrophies demonstrates a normalization of mitochondrial reaction to rotenone.[11]
See also
References
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- ↑ 2.0 2.1 2.2 GeneReviews/NCBI/NIH/UW entry on Collagen Type VI-Related Disorders
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- ↑ Lua error in package.lua at line 80: module 'strict' not found. – via ScienceDirect (Subscription may be required or content may be available in libraries.)
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- ↑ 7.0 7.1 Lua error in package.lua at line 80: module 'strict' not found.
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Further reading
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