Myotonic dystrophy

Congenital DM1 Estimates of the incidence of congenital DM vary widely, ranging from about 2 to 28 per 100,000 live births in different studies. 23 , 24 When DM symptoms manifest at birth, life-threatening complications ensue. However, once this critical period is past, improvement is likely during early childhood. Later, as a child approaches adolescence, it is likely that the symptoms of adult-onset DM1 will appear. Congenital DM has been observed only in DM1. To learn more, see When a child is born with congenital DM1, the mother usually has adult-onset DM1, even though her symptoms may be so mild that she did not know she had the disorder. Mothers with DM also can pass on the adult-onset form. A child can inherit the disease from the father, but it is almost always the adult-onset form. These unusual features are not seen in other genetic disorders. 25 , 26 For more, see Respiratory involvement is common and is the leading cause of death in the neonatal period. Mechanical ventilation is required for 70% to 80% or more of patients. 27 , 24 Feeding difficulties are also common, with many children requiring a nasogastric or gastric feeding tube. Both sucking and swallowing are related to muscle weakness in the face and the throat area. The overall mortality rate is approximately 15% to 20% percent and approaches 40% in severely affected infants. 27 Cognitive disabilities in congenital DM Infants born with congenital DM often have serious cognitive disabilities, although t...

Myotonia is a rare condition where your muscles are unable to relax after they contract. It can impact muscles throughout your body. Gene changes cause myotonia, and this condition can be passed down through families. Symptoms vary by the type of myotonia. Treatments include medication, avoiding triggers, lifestyle changes and supportive devices. Overview What is myotonia? Myotonia is a rare condition where your muscles aren’t able to relax after they contract. For example, you might not be able to let go of someone’s hand after you shake it, or you may have trouble standing up. This disorder can affect other organs throughout your body. Depending on the type of myotonia, the organs that can be affected include your heart, lungs, digestive tract, brain and eyes. Myotonia may be present at birth, or a healthcare provider may diagnose it in mid to late adulthood. Are there different types of myotonia? Myotonia disorders are classified as dystrophic or non-dystrophic. Both of these disorders affect the electrical process that regulates muscle contraction. Dystrophic myotonia also affects the muscle structure itself. Dystrophic myotonia (DM) is a type of • Myotonic dystrophy type 1 (DM1). • Myotonic dystrophy type 2 (DM2). Types of non-dystrophic myotonia include: • Andersen-Tawil syndrome. • Hyperkalemic periodic paralysis. • Hypokalemic periodic paralysis type 1 and type 2. • Myotonia congenita. • Paramyotonia congenita. • Sodium channel myotonia. Who might get myotonia? Peo...

Medical Management As yet, there is not a specific treatment that “gets at the root” of type 1 or type 2 myotonic dystrophy (DM1, DM2). Treatment is aimed at managing symptoms and minimizing disability. This section first addresses medical management of the many symptoms of adult-onset DM1/DM2 and childhood-onset DM1. Not everyone will require all of these aspects of medical management, and some symptoms may first appear or worsen as a person grows older. Also, medical management of congenital-onset DM1 during early childhood is different enough to require its own section. Click on the individual subtype to find more information on specific strategies for medical management: • • •