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.
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/