Ullrich congenital muscular dystrophy

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 Characteristically, bilateral contractures of the proximal joints of the upper extremities (shoulder and elbows) and proximal joints of the lower extremities (hips and knees). Spine contractures in the form of progressive scoliosis occurs and occasionally contracture of neck musculature also known as torticollis.
• Joint looseness Contractures can be associated with distal joint laxity of the upper extremities (wrists and fingers) and of the lower extremities (ankle and toes).
• 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

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

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.

References

References

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17. (May 2013). "Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies". Cold Spring Harbor Perspectives in Biology.