Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.
UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
UCMD is commonly associated with contractures, joint laxity, 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 (ambulation is typically lost by age 5–15 years)
Contractures (predominantly in proximal muscles, e.g. neck)
Joint looseness (predominantly in distal joints)
Fatty infiltration of muscle
Genetics
In terms of the genetics of UCMD1, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is both autosomal recessive and autosomal dominant 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.
In terms of the genetics of UCMD2, there are mutations in the gene COL12A1, and is autosomal recessive.
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. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:
MRI
Biopsy muscle
Genetic testing
Differential diagnosis
This includes
Phenotypes of overlap between Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy can be assumed. In the differential diagnosis of UCDM, even in patients without finger contractures, Bethlem myopathy could be considered.
Treatment
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
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
Bethlem myopathy
References
Further reading
External links
Myoneural junction and neuromuscular diseases
Collagen disease
Diseases named for discoverer
Rare diseases