Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy
Synonyms	Scleroatonic muscular dystrophy<ref name=orpha/>
Pronounce
Field
Symptoms	Muscle weakness<ref name=web/>
Complications
Onset
Duration
Types
Causes	Mutations in the COL6A1, COL6A2, and COL6A3 gene<ref name=gar/>
Risks
Diagnosis	Physical exam, Medical history<ref name=gar/>
Differential diagnosis
Prevention
Treatment
Medication	Physical therapy, Surgery(scoliosis)<ref name=gar/>
Prognosis
Frequency
Deaths

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.<ref>

Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI(link). www.ncbi.nlm.nih.gov.

Accessed 2016-05-11.

</ref><ref name="nih">GeneReviews/NCBI/NIH/UW entry on Collagen Type VI-Related Disorders</ref> It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.<ref>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.</ref>

Signs and symptoms

The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:<ref name="web"> Reference, Genetics Home. collagen VI-related myopathy(link). Genetics Home Reference.

Accessed 2016-05-11.

</ref><ref>,

 Handbook of Clinical Neurology. online version, 
  
 Elsevier, 
  
  
  
  
  
  
  
 Pages: 81–96,</ref>

• Muscle weakness
• Difficulty walking
• Contractures (predominantly in proximal muscles, e.g. neck)
• Joint looseness (predominantly in distal joints)

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.<ref name="orpha"> RESERVED, INSERM US14 -- ALL RIGHTS. Orphanet: Congenital muscular dystrophy, Ullrich type(link). www.orpha.net.

Accessed 2016-05-11.

</ref><ref>Bönnemann, Carsten G.,

 The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy, 
 Handbook of Clinical Neurology, 
 
 Vol. 101,
 pp. 81–96,
 DOI: 10.1016/B978-0-08-045031-5.00005-0,
 PMID: 21496625,
 PMC: 5207779, – via ScienceDirect (Subscription may be required or content may be available in libraries.)</ref>

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.<ref>

COL6A1 collagen type VI alpha 1 [Homo sapiens (human)] - Gene - NCBI(link). www.ncbi.nlm.nih.gov.

Accessed 2016-05-11.

</ref>

Diagnosis

Micrograph hyperkeratosis

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.<ref name=nih/> Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:

• MRI
• Biopsy muscle
• Genetic testing

Differential diagnosis

This includes<ref name=Bushby2014>Bushby KM, Collins J, Hicks D (2014) Collagen type VI myopathies. Adv Exp Med Biol 802:185-199</ref>

Treatment

Scoliosis X-ray

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.<ref name="gar">

Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program(link). rarediseases.info.nih.gov.

Accessed 2016-05-11.

</ref>

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.<ref name=nih/><ref>,

 Congenital Muscular Dystrophy Treatment & Management: Medical Care, Surgical Care, Consultations, 
 , 
 
 
 
 
 
 
 
 Full text,</ref>

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.<ref name=gar/>

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.<ref>

Scoliosis: MedlinePlus(link). www.nlm.nih.gov.

Accessed 2016-05-12.

</ref>

Research

Cyclosporin-A

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.<ref>

OMIM Entry - # 254090 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1(link). omim.org.

Accessed 2016-05-12.

</ref>

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.<ref>Bernardi, Paolo,

 Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies, 
 Cold Spring Harbor Perspectives in Biology, 
 
 Vol. 5(Issue: 5),
 pp. a011387,
 DOI: 10.1101/cshperspect.a011387,
 PMID: 23580791,
 PMC: 3632061,</ref>

See also

• Muscular dystrophy
• Congenital muscular dystrophy

References

Further reading

• Evelyn B. Kelly,

 Encyclopedia of Human Genetics and Disease [2 volumes]. online version, 
  
 ABC-CLIO, 
  
  
  
 ISBN 9780313387142,

• Carakushansky, Gerson,

 Moderately progressive Ullrich congenital muscular dystrophy, 
 Jornal de Pediatria, 
 2011,
 Vol. 88(Issue: 1),
 pp. 93–96,
 DOI: 10.2223/JPED.2112,
 PMID: 22016142,
 
 
 Full text,

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.(link). www.guideline.gov.

Accessed 2016-05-12.

• ,

 Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue, 
 Brain, 
 
 Vol. 132(Issue: 1),
 pp. 147–155,
 DOI: 10.1093/brain/awn289,
 PMID: 19015158,
 
 
 Full text,

External links

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