Congenital Myotonic Dystrophy
Type of disease: Rare conditions
Congenital myotonic dystrophy is an inherited condition of the muscles that is present at birth (congenital). Because myotonic dystrophy is a progressive (worsening over time) condition that often does not present until adulthood, the parent may not know they have the condition before giving birth to their child. When myotonic dystrophy is present at birth it is often more severe.
Symptoms of congenital myotonic dystrophy may include respiratory problems that improve after the first month of life, low muscle tone (hypotonia), clubfoot, and poor head control and facial weakness. Later in childhood, the symptoms may include lack of concentration, motivation, or energy; delayed motor and intellectual milestones; and delayed bladder and bowel control.
Diagnosis may be made before the baby is born during an ultrasound or through family history, if the parental diagnosis is known. Diagnosis may also be made after birth. There is currently no cure, but treatment and management of the symptoms may help. Though this condition can be life threatening early on, babies who survive until their first birthday, often live to adulthood. Physical therapy may improve muscle tone and improve the child’s motor development. Motor aids such as canes, crutches, and walkers may also be necessary.
Congenital myotonic dystrophy is inherited in an autosomal dominant manner. This means that only one copy of the gene causing this condition is changed (or carries a mutation). Each child of an affected individual has a 50% chance of also inheriting the condition. Congenial myotonic dystrophy also shows anticipation which means that as it is passed to the next generation, symptoms often start early and are often more severe. A genetic counselor can provide a better understanding of the genetics and recurrence risks. If your child has been diagnosed with congenital myotonic dystrophy, talk with your doctor about the most current treatment options.