Hi what great info. Kyle is on carbamazapine but the blue spells still occur. His swallow is poor. Would like to know if he wil eva b able to eat?

Type of Myotonia: does anyone else hav a baby that stops breathing because of myotonia

Country: uk

Hopefully he will improve gradually, and may not have severe symptoms again until around puberty. The first two years are the toughest. There may be another medication that works better than carbamazepine.

There is another site that has a lot of information on DM1, a type of myotonic dystrophy. Kyle would have the congenital form. I'll paste in the description from their website about the breathing and swallowing problems. There are many more resources from their site that you might want to check out.

Jan

Congenital DM1 is the most severe and earliest occurring form of myotonic dystrophy. It occurs when a mother, who often is not aware she has DM1, passes the mutation that causes DM1 onto her child. During pregnancy, she may have noticed less than normal levels of fetal activity, had a condition called hydramnios where excess amniotic fluid (edema) accumulates, or had a long, difficult labor. (In DM2, there have been no reported cases of a congenital form).

At birth, serious problems are evident and often require emergency medical attention. Symptoms can include severe hypotonia (weak muscle tone, often referred to as "floppiness"), lack of movement, and difficulties with breathing, sucking and swallowing. Acute respiratory issues are often seen, leading to a high mortality rate in affected infants. However, intensive clinical intervention can significantly improve the survival rate of these children. Feeding issues may also be critical in the early months, possibly requiring caloric supplementation or use of a feeding tube to ensure that these infants receive adequate nutrition.

Motor function improves slowly but dramatically in children who survive the first weeks. Children with congenital DM generally learn to walk (sometimes with the help of a walker), although physiotherapy or surgery may be required to address gait issues. Both gross and fine motor skill development may be delayed. Swallowing difficulties, reduced facial expression or difficulties with pronunciation may persist due to early muscle issues. Sign language has proven to be an effective communication tool for some affected children.

Hatchet facies is a term sometimes used to describe the facial appearance of children with congenital and childhood DM1; they have a tented, open mouth, elongated face and blunt affect. This appearance often results from the re-shaping of facial bones in childhood and adolesence due to the progressive pulling and wasting of affected muscles.

In many of these children, issues with mental development exist. Self-care skills (such as toileting) can be delayed and learning disabilities are common. Early intervention and educational support can greatly help these children.

Muscle, cardiac, endocrine, and other DM1 symptoms may arise in adolescence, and tend to follow the progression seen with classical adult onset DM1.

Although no disease-altering therapies exist, early diagnosis and symptomatic treatment can greatly improve the quality of life of individuals affected with this disorder. Regular monitoring of systems can identify potentially life-threatening conditions and allow patients to avoid or reduce complications as the disease progresses.

Type of Myotonia: Thomsen's

Country: USA