It is natural to feel overwhelmed when your child is first diagnosed with a neuromuscular disorder or neuromuscular disease (NMD). Learning more about these conditions and how they affect children can help you and your family be better prepared and feel less alone.
Your muscles are controlled by neurons — nerve cells that send information to and from the brain and spinal cord. In people with NMDs, neurons become damaged or don’t work properly. As a result, their nerves can’t effectively tell their muscles to move, and their muscles atrophy — waste away and become thin and weak.
Different types of NMDs can arise during different developmental stages. While some don’t start causing symptoms until adulthood, others may become apparent during infancy, childhood, or the teenage years.
Here is some information that may be helpful if your child has been diagnosed with a new pediatric neuromuscular disorder.
Overall, there are more than 150 different conditions that fall in the NMD category, including:
Each type of NMD may affect different parts of the neuron or muscle. For example, NMDs like SMA lead to problems with the motor neuron (a nerve that connects to a muscle). These types may be more aggressive — people with these conditions are more likely to have additional health problems and require more intensive treatments.
Other types of NMD may be less likely to lead to complications and additional health conditions. These include NMDs that lead to nerve damage outside of the brain and spinal cord, such as peripheral neuropathy, and those that directly affect the muscles, such as muscular dystrophy.
Each NMD is a rare disease, affecting a small subset of people. However, collectively as a whole, many children are affected by these conditions. Some researchers estimate NMDs affect around 10 million people worldwide, the same prevalence as Parkinson’s disease.
This means that your child isn’t alone in their condition. There are millions of people around the world who are living with similar disorders.
NMDs typically cause problems with the nervous system and muscles, leading to symptoms like:
Symptoms may vary between different types of NMDs. Additionally, symptoms can appear in different parts of the body depending on which area is most affected by the condition.
If your doctor is concerned that your child may have an NMD, they may recommend several diagnostic tests. The diagnostic process can help you understand whether your child has an NMD and, if so, which one.
An NMD diagnosis may start with a physical exam in which your pediatrician looks for signs of illness and asks you or your child about their symptoms. They may also inquire about your child’s personal and family health history.
Based on this initial exam, your pediatrician may recommend other tests or give you a referral to a specialist. Tests that may help diagnose an NMD include:
When your child develops a serious health condition, it’s normal to wonder what triggered the disease.
About 4 out of 5 cases of NMDs are caused by genetic mutations that are passed down from parent to child. You can’t stop these mutations from being passed down, and you may not even realize you were a carrier for a mutation until your child develops a health problem.
For an NMD not caused by a genetic mutation, it’s often not clear what exactly triggered the condition. Other potential causes include:
Some nutritional deficiencies can also trigger these conditions. For example, low levels of vitamin B1 (thiamine), vitamin B3 (niacin), vitamin B6, vitamin B12, vitamin E, or copper can lead to neuromuscular conditions.
So far, there is no cure for NMDs. There aren’t any therapies that are guaranteed to make these conditions disappear. However, researchers are constantly exploring potential new treatment options, and currently available therapies can help slow down disease progression, minimize symptoms, and help your child experience a better quality of life and sense of well-being.
Early recognition and evaluation for the treatment of NMDs give your child the best chance at having a positive outcome. Talk to your pediatrician right away if you think your child is experiencing health issues, and make sure to follow the treatment plan that your child’s health care team recommends.
Doctors may recommend many types of treatments for NMDs, including medications, gene therapy, surgery, physical therapy, and occupational therapy.
NMD treatment is carried out by a multidisciplinary team of health care professionals. Depending on your child’s needs, their team may include a:
The treatment options available to your child depend on many factors, including which NMD they are diagnosed with, any genetic mutations they may have, their symptoms, their age, and overall health. Work with your child’s health care team to come up with a treatment plan that feels like a good fit for your child. Don’t be afraid to ask questions, bring up concerns, or get a second opinion from another health care provider.
If your child is living with an NMD, you may be able to get from local, statewide, and national resources. You may want to consider:
Many nonprofit groups and patient advocacy organizations also list resources on their website. For example, parents of children with SMA can get in touch with the Cure SMA organization for extra assistance, while those with muscular dystrophy can access resources through the Muscular Dystrophy Association.
Facing a neuromuscular disorder diagnosis that affects your child is scary. However, there are others who have walked in your shoes. Look for support groups to connect with other parents and caregivers, share tips for managing symptoms, and get a sense of how other families cope with these conditions.
Your child’s health care team may be able to recommend support groups that meet in your area, such as at a local hospital. You can also find online support groups at sites like mySMAteam, which help you virtually meet other families who are living with SMA and related conditions.
On mySMAteam, the social network for people with spinal muscular atrophy and their loved ones, more than 2,000 members come together to ask questions, give advice, and share their stories with others who understand life with SMA.
Is your child living with a neuromuscular disorder? Have you found it helpful to connect with others? Share in the comments below or start a conversation by posting on your Activities page.