Ullrich Congenital Muscular Dystrophy

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Retrieved

2021-01-18

Source

Wikipedia

Trials

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Genes

COL6A3, COL6A2, COL6A1, COL12A1, DMD, FN1, BGN, UPF1, SEMA6A, SMG1, VWF, GPX4, SMCP, LAMA2, TNC, CSPG4, COL6A5

Drugs

Omigapil maleate

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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

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.