New Research Highlights the Link Between Duchenne Muscular Dystrophy and Rhabdomyosarcoma

According to a story from, it has long been known that people with the rare disorder Duchenne muscular dystrophy are at a greater risk of developing a rare cancer called rhabdomyosarcoma. This is partially due to the constant repair that muscle cells attempt to take to compensate for the damage that the disease causes, but a recent study has revealed more in-depth information about how rhabdomyosarcoma arises in these patients.

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a neuromuscular disease, and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. To learn more about Duchenne muscular dystrophy, click here.

About Rhabdomyosarcoma

Rhabdomyosarcoma is an aggressive type of cancer that develops from skeletal muscle cells. It most frequently affects children and teens. Outcomes in this disease can vary widely, as there are different variants of rhabdomyosarcoma that respond differently to treatment. Symptoms depend on where the tumor appears but may include a visible mass in the affected area, blood in the urine, sinusitis, facial pain, cranial nerve dysfunction, headaches, proptosis, and ear discharge. Treatment often include surgery, radiation therapy, chemotherapy, and, in some cases, immunotherapy. To learn more about rhabdomyosarcoma, click here.

Research Findings

The researchers found that muscle stem cells are are the likely origin of rhabdomyosarcoma in patients with Duchenne muscular dystrophy. By studying a mouse model of Duchenne muscular dystrophy, the scientists were also able to identify two genes which appeared to play a major role in the growth of the tumor. The team found that muscle stem cells, when left to grow in isolation, saw a greater rate of self replication and renewal and began to display patterns of gene expression similar to rhabdomyosarcoma that eventually formed into tumors. RNA sequencing found that the Ccl11 and the Rgs5 genes were linked to the growth of rhabdomyosarcoma tumors.

This study was originally published in the scientific journal Cell Reports and can be found here.


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