Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy
Synonyms	Scleroatonic muscular dystrophy
Pronounce
Field
Symptoms	Muscle weakness
Complications
Onset
Duration
Types
Causes	Mutations in the COL6A1, COL6A2, and COL6A3 gene
Risks
Diagnosis	Physical exam, Medical history
Differential diagnosis
Prevention
Treatment
Medication	Physical therapy, Surgery(scoliosis)
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. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.

Signs and symptoms

The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:

• 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.

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.

Diagnosis

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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. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:

• MRI
• Biopsy muscle
• Genetic testing

Differential diagnosis

This includes

• Autosomal recessive myosclerosis
• Bethlem myopathy
• Ehlers–Danlos syndrome
• Emery–Dreifuss muscular dystrophy
• Limb-girdle muscular dystrophy
• RYR1-associated multiminicore disease

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.

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.

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.

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.

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.

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.

See also

• Muscular dystrophy
• Congenital muscular dystrophy

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. Full text,

 www.guideline.gov, 
  
  
  
 Accessed on: 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

Classification	ICD-10: G71.2 OMIM: 254090 MeSH: C537521 DiseasesDB: 33679
External resources	Orphanet: 75840

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