Understanding Muscular Dystrophy

Muscular dystrophy is a genetic condition that affects your muscles’ ability to repair themselves.

Depending on the type of muscular dystrophy, the impact this condition has on everyday life can vary.

The good news is that physical therapy and occupational therapy are great options to consider to improve your strength and reduce your symptoms.

This means starting young if your child has been diagnosed with muscular dystrophy.

Here at Little Feet Therapy, we have a team of pediatric physical and occupational therapists that can help kids with muscular dystrophy.

Read on to find out more about muscular dystrophy and how to find help to manage it.

What Is Muscular Dystrophy?

Muscular dystrophy is a genetic disease caused by a mutation in your DNA at the genetic level.

There is a gene in your DNA that controls the proteins required for muscle health.

The gene mutation in muscular dystrophy causes muscle weakness and muscle damage, along with muscle wasting over time.

Symptoms of muscular dystrophy tend to appear between birth and teenage years.

Boys are more often affected than girls, but the reason for this isn’t fully understood.

Girls can also have muscular dystrophy, but their symptoms tend to be milder.

In some cases, girls may carry the gene for muscular dystrophy, but not experience any symptoms.

What Types Of Muscular Dystrophy Are There?

There are nine main types of muscular dystrophy:

• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Myotonic muscular dystrophy
• Facioscapulohumeral muscular dystrophy
• Congenital muscular dystrophy
• Limb-Girdle muscular dystrophy
• Emery-Dreifuss muscular dystrophy
• Distal muscular dystrophy
• Oculopharyngeal muscular dystrophy

But, within these types are over thirty different variations and subtypes.

Duchenne is the most severe, and most common type of muscular dystrophy.

It often results in the wasting of skeletal, heart, and lung muscles.

Becker muscular dystrophy often affects your hips, pelvic area, thighs and shoulder muscles first.

It can also affect your heart.

Myotonic muscular dystrophy is the most common form among adults that often contributes to long muscle cramping episodes.

It can affect most of the muscles and systems in your body.

Finally, facioscapulohumeral causes muscular weakness in your face, shoulder, and upper arm muscles.

What Causes Muscular Dystrophy?

Muscular dystrophy is a genetic disease, which means it’s caused by a gene mutation that affects your body’s ability to use protein to repair your muscles.

The mutation leaves your muscles not able to function normally and unable to repair themselves using protein.

The reason for this particular genetic mutation isn’t fully understood.

Muscular dystrophy is typically progressive, but the rate at which it gets worse over time is dependent on the type of muscular dystrophy and the intervention.

Is Muscular Dystrophy Inherited?

All types of muscular dystrophy are genetic, which means they’re passed to children from their parents.

There are three main ways this can happen.

Let’s take a look.

Autosomal Dominant Inheritance

Autosomal dominant inheritance occurs when you receive one normal gene from one of your parents and one mutated gene from the other.

You will generally have a 50% chance of getting the mutated gene, and the condition muscular dystrophy.

Often, if your parent passes on a mutated gene, they often have the condition themselves.

Autosomal Recessive Inheritance

Autosomal recessive inheritance occurs when both of your parents carry and pass on the mutated gene.

In this case, your parents are not affected by the disorder but are instead carriers of the mutated gene.

You would have a 25% chance of inheriting both mutated genes, which would result in muscular dystrophy.

You would also have a 50% chance of inheriting one mutated gene to become a carrier of the condition without being affected, just like your parents.

X-Linked Recessive Inheritance

X-linked recessive inheritance, also sometimes called sex-linked recessive inheritance, occurs when a mother carries the mutated gene and passes it to her children.

It is called x-linked because sex dictates the possible inheritance outcomes.

Boys will have a 50% chance of getting this gene, which means you will have muscular dystrophy.

Girls will also have a 50% chance of getting the gene.

But, as long as they get a normal gene from their father, they will only be a carrier and not have any symptoms.

Another iteration of this inheritance happens when a father passes this gene on to his daughter.

In this case, she would be a carrier too.

A father cannot pass this gene on to his son.

How Is Muscular Dystrophy Diagnosed?

Muscular dystrophy is typically diagnosed by a medical doctor.

If you suspect your child has muscular dystrophy, your doctor will start with a general physical exam.

This will include an exam of your child’s strength, balance, coordination, and reflexes.

This will help them understand the range of your child’s symptoms, and help rule out other conditions.

They’ll also ask you about your family’s medical history, and your child’s symptoms.

Tests they may recommend for diagnosing muscular dystrophy include:

Muscle biopsy – your doctor will remove a small piece of muscle tissue using a hypodermic needle.

If your child is missing certain proteins, that can indicate the type of muscular dystrophy your child has.

Blood tests – damaged muscles will release certain enzymes into the bloodstream.

If your child has elevated levels of these enzymes, it may indicate muscular dystrophy.

Genetic tests – your doctor can look for the genes that cause muscular dystrophy.

Other solutions include MRI or ultrasound imaging to see the quality of your child’s muscles, and EKG to measure their heart strength.

What Challenges Do Kids With Muscular Dystrophy Face?

There are a number of different challenges that children with muscular dystrophy face on a daily basis.

We’ll go through each type below.

1. Motor Skills Delays

If your child has muscular dystrophy, they will most likely experience some type of motor skills delay.

These symptoms can start as early as birth, or later in life depending on the severity of their condition.

In terms of gross motor skills development, there is a common “waddling gait” most kids with muscular dystrophy have.

It’s also common for kids with muscular dystrophy to have difficulty running, jumping, and rising from seated positions.

They might also fall frequently, and walk on their toes.

RELATED: Balance And Coordination Therapist For Kids

2. Cognitive Delays

You are at a greater risk of developing cognitive and developmental delays if you have muscular dystrophy.

This includes delays with language acquisition, which is associated with significant cognitive impairments in later life.

The reason for this is not yet fully understood.

Current research shows that the condition is associated with smaller total brain volume, which may contribute to this.

More research is needed, though.

Some other cognitive conditions more common with muscular dystrophy include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, and intellectual disabilities.

3. Frequent Fatigue

Fatigue is a common complaint for kids with muscular dystrophy.

This occurs because of the common symptoms of muscle weakness, respiratory challenges, and resulting sleep disturbances.

Your child may feel chronic fatigue, or become tired more quickly after physical exertion.

4. Other Challenges

Other challenges often associated with muscular dystrophy include constipation, kidney stones, obesity, anxiety, and depression.

Obesity is one condition that can then cause other challenges like short stature, pubertal delay, and adrenal insufficiency.

Kids with muscular dystrophy are also more likely to experience glucose intolerance, dyslipidemia, and gastrointestinal reflux disease (GERD).

Is There A Cure For Muscular Dystrophy?

Currently, there is no known cure for muscular dystrophy.

But, treatment can drastically improve your child’s quality of life.

If you suspect your child has muscular dystrophy, or if you’ve gotten a diagnosis from your pediatrician, it’s a good idea to seek treatment sooner than later.

Early intervention therapies tend to be more effective than waiting until later.

What Treatments Are Available For Muscular Dystrophy?

There are a number of great treatment options to consider that can help your management of muscular dystrophy.

Let’s go through the main ones below.

1. Physical Therapy

Physical therapy is a great treatment to consider if your child has muscular dystrophy.

Your child’s physical therapist will work to help build and maintain their mobility as they grow.

What this looks like tends to be different depending on how old your child is, and what type of muscular dystrophy they have.

However, a general approach to pediatric physical therapy for muscular dystrophy includes:

• Improve flexibility
• Improve muscle strength
• Reduce and manage pain
• Building gross motor skills
• Improve independence
• And more

Your pediatric physical therapist may also work with your child to find physical activities they enjoy and are able to do.

2. Occupational Therapy

Occupational therapy is another treatment option that works well with physical therapy.

Child occupational therapists work mostly to help develop fine motor skills, which can also be affected by muscular dystrophy.

This includes helping your child:

• Develop their self care skills
• Develop their handwriting and typing skills
• Use eating utensils
• Improve their range of motion
• Fitting for a wheelchair, orthotics, braces, or other mobility aids
• And more

They may also make recommendations for changes to your child’s home or school environment to better accommodate their needs.

3. Other Therapy Options

There are other options that exist to compliment your child’s treatment plan for muscular dystrophy.

Respiratory therapy can help improve respiratory strength, which is especially helpful in case of illness.

Speech therapy can help develop your child’s face and throat muscles, improving their ability to communicate.

Finally, depending on the severity of your child’s condition, your physician may recommend pharmaceutical or surgical options.

Common ones include installing a pacemaker, cataract removal, or surgery to correct scoliosis.

Book Your Appointment With Little Feet Pediatric Therapy Today

Muscular dystrophy is a condition that can have a great impact on your child’s life.

Physical therapy and occupational therapy can help.

If your child is diagnosed, the earlier you start treatment, the less of an impact it can have on their development.

We’re Little Feet Pediatric Therapy, and we’re here to help.

Book your appointment with Little Feet Pediatric Therapy today.