Quick Links: Skip to main page content Skip to Search Skip to Topics Menu Skip to Section Content Menu Skip to Common Links
  • Decrease font size
  • Return font size to normal
  • Increase font size
U.S. Department of Health and Human Services

For Industry

  • Print
  • Share
  • E-mail
-

Congenital Muscular Dystrophy: Luke and Kingsley's Stories

Luke and Kingsley visited FDA and told their story of living with congenital muscular dystrophy (CMD).

CMD consists of a group of rare diseases causing muscle weakness at birth or early infancy. Individuals with CMD may appear “floppy” due to low muscle tone and may have poor spontaneous movements early on. Some children never gain the ability to walk, while others lose the ability as they grow older. In time, progressive weakness and joint contractures, spinal deformities, and breathing difficulties occur and may affect quality of life and life span. Some individuals with CMD may also have seizures and cardiomyopathy (enlarged heart).

The diagnosis of CMD relies on clinical findings, muscle biopsy, immunostaining of muscle that is abnormal in specific subtypes, and brain Magnetic Resonance Imaging that may show brain structural abnormalities indicative of CMD. Molecular genetic testing allows for genetic confirmation of some forms of CMD.

Management of CMD is tailored to each individual’s needs. Management includes weight control to avoid obesity; physical therapy and stretching exercises to promote mobility and prevent joint contractures; use of mechanical assistive devices to help with ambulation and mobility; monitoring and surgical intervention for orthopedic complications; and monitoring of respiratory function. Some individuals benefit from assisted cough, noninvasive ventilation, or mechanical ventilation via tracheostomy. Individuals with CMD may also require medications such as laxatives to prevent constipation, medications for gastroesophageal reflux (GER), anti-congestive medications to treat cardiomyopathy, and anti-seizure medications.     

 

Dr. Cote introduces CMD families to the FDA staff. Anne, whose daughter has CMD, talks about the genetics of CMD.

 

Luke's mother talks about how he wasn't diagnosed with CMD until he was 8 years old, although he had muscle weakness from birth.

 

Kingsley's father talks about how she had muscle weakness at birth and was diagnosed soon after with CMD.

 

Dr. Cote asks Luke and Kingsley about what they want to do in the future. Kingsley talks about her future plans to go to college and be a writer and to be as independent as possible. Luke’s dad talks about his son’s future plans to go to college and the challenges of living independently with CMD.

 

Dr. Cote talks to Luke and Kingsley how they currently manage CMD. Kingsley takes anti-seizures medications and Luke takes medication for stomach reflux and uses respiratory breathing treatments. Anne talks about the symptoms of CMD and the optimization of medical care.

 

The families talk about their hopes for finding a treatment to stop or slow the progression of CMD.

For more information on congenital muscular dystrophy please visit: http://www.ncbi.nlm.nih.gov/books/NBK1291/#cmd-overview.

Resources and CureCMD: http://curecmd.org/

-
-