Ullrich congenital muscular dystrophy (UCMD) is a rare genetic disease caused by mutations in one or more of the genes encoding for a protein called collagen type 6. Collagen type 6 is an extracellular protein found in the muscle, skin, tendon, and blood vessels.
UCMD is characterized by severe muscle weakness that appears soon after birth, loss of muscle tone, stiff joints, and hypermobility in the wrists and ankles, among other symptoms.
The disease usually progresses slowly but patients generally develop respiratory failure that requires ventilator support in the first or second decade of life.
There is currently no cure for UCMD but supportive treatments are available to manage the different symptoms and improve patients’ quality of life.
Management of mobility issues
UCMD patients require active physiotherapy to promote mobility and independence.
Standing frames may be necessary to achieve upright posture and prevent or delay the development of scoliosis (abnormal curvature of the spine) and contractures (shortened and hardened muscles or tendons that cannot stretch normally).
Management of contractures
A regular and aggressive stretching program with dynamic splinting is recommended to delay the worsening of contractures. Contractures may be surgically released, but they may recur after surgery.
Management of scoliosis
Scoliosis generally develops in the first or second decade of life. Bracing may be an option to delay the progression of the curvature until the spine attains maximal growth at which point spinal fusion surgery can be considered. However, there are risks associated with the surgery. The decision to undergo surgery also depends on the mobility of the child and the degree of the spinal curvature.
Management of feeding and nutritional issues
Some children with UCMD may require nutritional support because of difficulties in swallowing food and fluids. Bone density needs to be continuously monitored, and calcium and vitamin D supplementation may be necessary. In severe cases, patients may be fed by a gastrostomy tube to promote weight gain.
Management of respiratory insufficiency
Progressive respiratory insufficiency is common among UCMD patients. Therefore, careful respiratory monitoring by lung function tests is necessary. Respiratory support with nocturnal ventilation can help reduce symptoms, promote a better quality of life, and allow regular schooling. Moreover, vaccinations, and early and aggressive use of antibiotics can prevent respiratory problems due to infections.
Mitochondrial dysfunction leading to programmed cell death has been associated with UCMD. In a pilot study, five patients with congenital muscular dystrophy including UCMD were treated daily for one month with cyclosporine A, which inhibits the mitochondrial permeability transition pore, an inducer of cell death. The treatment decreased cell death and improved mitochondrial function in the muscle cells of the patients. However, muscle strength was not significantly improved.
A follow-up study of six UCMD patients reported that long-term daily cyclosporine A treatment for one to 3.2 years corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic (dying) cells. However, it did not change the status of motor function. Moreover, respiratory function deteriorated in all patients.
While these studies imply that preventing cell death and improving mitochondrial function may be beneficial, more research is needed to reach a conclusion about the potential efficacy of cyclosporine A.
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