What is FSHD in children?

Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that affects the muscles of your child’s face, shoulders, upper arms, and lower legs. These muscles weaken and shrink (atrophy). Symptoms usually appear before 20 years of age. The disease slowly gets worse, causing weakness in other parts of the body. Most children with FSHD remain able to walk.

What causes FSHD in a child?

FSHD is caused by certain gene changes (mutations). A gene called DUX4 is normally inactive in most cells in the body but gets activated in FSHD. Other genetic factors play a role in FSHD type-2, which is less common. Both types cause similar problems.

FSHD affects both boys and girls. Either parent can pass it down to their children. This is an autosomal dominant inheritance pattern. A parent with the FSHD gene has a 1 in 2 chance of passing it on to each of their children.

Sometimes a child may have FSHD even though a parent doesn’t have the condition. This may happen because the defect that causes FSHD is found in some of the parent’s sperm or egg cells but not in the rest of the parent’s body cells. In this case, the parent may have an increased risk of passing the defect on to any of their other children as well.

In some cases, FSHD results from new (sporadic) mutations instead of through inheritance.

What are the symptoms of FSHD in a child?

Symptoms usually show up during the teenage years. But sometimes FSHD appears in babies. The first things you may notice are weakness in your child’s face and shoulder muscles. FSHD may affect one side of the body more than the other. FSHD rarely affects the heart and respiratory system. It also tends to get worse slowly. The severity of FSHD varies a lot, but most people with the disease have a normal life span.

Common symptoms include:

• Shoulder blades that stick out from the back (scapular winging)

• Trouble reaching up with the arms or throwing a ball

• Difficulty whistling, blowing up a balloon, or using a straw

• Difficulty turning the corners of the mouth up when smiling

• Eyes not closing all the way during sleep

• Weakness in ankle or pelvic muscles that make it difficult to walk

How is FSHD diagnosed in a child?

Your child’s healthcare provider will take a health history, asking about recent symptoms, past health conditions, and your family's health history. The healthcare provider will do a physical exam, including the affected muscles. Your child may need tests. These include:

• Blood tests for muscle enzymes, such as creatine kinase

• DNA blood tests to look for the defect

• Electromyography to measure the electrical activity of the muscles

• MRI to see the pattern of muscle damage

• Muscle biopsy to look at the muscle cells or confirm a diagnosis

Your child’s healthcare provider may make a diagnosis based on the exam and some of the above tests or other tests. Your child may first see their primary healthcare provider and then be referred to a neurologist. Some neurologists have special training to treat nerve and muscle diseases, such as FSHD. Your child may also need care from other providers, such as physical therapists.

How is FSHD treated in a child?

There is no cure for the disease. Treatment focuses on supportive treatment to help your child manage the symptoms. Physical therapy is a key part of managing FSHD. But other therapies also are important.

• Mild, low-intensity exercises. Your child’s physical or occupational therapist can plan a safe exercise program.

• Nonsteroidal anti-inflammatory medicines. These may ease muscle inflammation and pain.

• Scapular fixation. This surgery can keep the shoulder blade in one spot to help your child use their arms. But surgery is not always successful.

• Support devices. These include corsets, back supports, bras, lower-leg braces, and high-top shoes.

• Emotional support for the child and the family. A diagnosis of FSHD can be emotionally and financially devastating. Counseling and community resource support can be critical to family stability.

• Active involvement with the school community. The Americans with Disabilities Act gives special protections for people with disabilities. These protections apply to children in the public school system.

What are possible complications of FSHD in a child?

The muscle weakness in FSHD tends to get worse slowly and does not usually affect life span. It often affects other muscles of the body, especially the lower legs, belly (abdomen), and hips. As FSHD gets worse, you may notice some of these other symptoms in your child:

• Difficulty lifting the feet (foot drop). This may cause your child to drag their feet or lift their knees to walk with high steps.

• Swayback (lordosis) in the lower back. This is because of abdominal muscles that have gotten weak.

• Hip weakness. This only happens in some people with FSHD, usually in midlife. About 1 in 5 people with FSHD need to use a wheelchair at some point.

• Minor hearing loss. This is especially true for high pitches.

• Problems affecting the retina of the eye (uncommon)

• Sideways curving of the spine (scoliosis) (uncommon)

• Rigid joints in the ankles that are hard to move (contractures) (uncommon)

• Heart problems (rare)

• Vision loss (rare)

• Breathing problems (rare)

• Emotional problems, such as depression

Key points about FSHD in children

• FSHD is a rare genetic muscle disease that causes weakness in the muscles of your child’s face, shoulders, upper arms, and lower legs.

• FSHD affects both boys and girls. Symptoms usually first appear in the teenage years. The disease slowly gets worse.

• At first, FSHD may make it difficult to whistle, drink from a straw, smile, lift up the arms, or throw a ball. The condition may get worse and cause loss of mobility.

• Physical therapy and supportive treatment can help your child manage FSHD.

• Community resources, including the public education system and counseling services, can help your child and family manage the disease.

• The severity of FSHD varies a great deal, but most people with the disease have a normal life span.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

• Know the reason for the visit and what you want to happen.

• Before your visit, write down questions you want answered.

• At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

• Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

• Ask if your child’s condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if your child does not take the medicine or have the test or procedure.

• If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your child’s healthcare provider after office hours. This is important if your child becomes ill and you have questions or need advice.