Ullrich congenital muscular dystrophy
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] It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.[3]
Signs and symptoms[edit | edit source]
The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:[4][5]
- Muscle weakness
- Difficulty walking
- Contractures (predominantly in proximal muscles, e.g. neck)
- Joint looseness (predominantly in distal joints)
Genetics[edit | edit source]
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.[6][7]
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.[8]
Diagnosis[edit | edit source]
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]
Differential diagnosis[edit | edit source]
This includes[9]
Treatment[edit | edit source]
Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching to prevent and reduce contractures. Respiratory support may be needed at some point by the affected individual.[10]
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][11]
Prognosis[edit | edit source]
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.[10]
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.[12]
Research[edit | edit source]
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.[13]
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.[14]
See also[edit | edit source]
References[edit | edit source]
- ↑ "Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-11.
- ↑ 2.0 2.1 2.2 GeneReviews/NCBI/NIH/UW entry on Collagen Type VI-Related Disorders
- ↑ O. Ullrich: Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. In: Zeitschrift für die gesamte Neurologie und Psychiatrie. 126, 1930, p. 171, doi:10.1007/BF02864097.
- ↑ Reference, Genetics Home. "collagen VI-related myopathy". Genetics Home Reference. Retrieved 2016-05-11.
- ↑
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy, Ullrich type". www.orpha.net. Retrieved 2016-05-11.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑ – via ScienceDirect (Subscription may be required or content may be available in libraries.)
- ↑ "COL6A1 collagen type VI alpha 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-11.
- ↑ Bushby KM, Collins J, Hicks D (2014) Collagen type VI myopathies. Adv Exp Med Biol 802:185-199
- ↑ 10.0 10.1 "Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-05-11.
- ↑
- ↑ "Scoliosis: MedlinePlus". www.nlm.nih.gov. Retrieved 2016-05-12.
- ↑ "OMIM Entry - # 254090 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1". omim.org. Retrieved 2016-05-12.
- ↑
Further reading[edit | edit source]
- "National Guideline Clearinghouse | Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and Electrodiagnostic Medicine". www.guideline.gov. Archived from the original on 2016-04-08. Retrieved 2016-05-12.
External links[edit | edit source]
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