Ullrich congenital muscular dystrophy is a form of

congenital muscular dystrophy Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges fro ...

. It is associated with variants of type VI

collagen Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole ...

, 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 Otto Ullrich (1894-1957) was a German pediatrician who identified and named Ullrich syndrome. Biography After Otto Ullrich studied medicine in Munich, he served as an assistant physician in the medical corps during World War I. Following the ...

, 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 Skeletal muscles (commonly referred to as muscles) are organs of the vertebrate muscular system and typically are attached by tendons to bones of a skeleton. The muscle cells of skeletal muscles are much longer than in the other types of muscl ...

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 Collagen alpha-1(VI) chain is a protein that in humans is encoded by the ''COL6A1'' gene. Function The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix ...

COL6A2 Collagen alpha-2(VI) chain is a protein that in humans is encoded by the ''COL6A2'' gene. Function This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product o ...

, and

COL6A3 Collagen alpha-3(VI) chain is a protein that in humans is encoded by the ''COL6A3'' gene. This protein is an alpha chain of type VI collagen that aids in microfibril formation. As part of type VI collagen, this protein has been implicated in Bethl ...

. This sub-type of muscular dystrophy is

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

in nature. COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI

is the encoded protein.

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 includesBushby KM, Collins J, Hicks D (2014) Collagen type VI myopathies. Adv Exp Med Biol 802:185-199

Treatment

Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching to prevent and reduce

contracture In pathology, a contracture is a permanent shortening of a muscle or joint. It is usually in response to prolonged hypertonic spasticity in a concentrated muscle area, such as is seen in the tightest muscles of people with conditions like spasti ...

s. 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 is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...

. 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 Ciclosporin, also spelled cyclosporine and cyclosporin, is a calcineurin inhibitor, used as an immunosuppressant medication. It is a natural product. It is taken orally or intravenously for rheumatoid arthritis, psoriasis, Crohn's disease ...

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.

References

External links

{{Scleroprotein disease Myoneural junction and neuromuscular diseases Collagen disease