Muscular Dystrophy In Children: Causes, Symptoms And Management

Muscular Dystrophy In Children Causes, Symptoms And Management

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Muscular dystrophy (MD) limits the functioning of muscles. The degeneration can be progressive, and the child may require support to move around. But what causes muscular dystrophy in children? MomJunction helps you understand the causes, symptoms, treatment process and management of MD.

What Is Muscular Dystrophy?

Muscular dystrophy is a broad term used to cover a range of genetic ailments that cause muscle wasting and weakness (1).

Individuals with MD have fewer muscle fibers than those with healthy muscles. They might also have an abnormal muscle shape as the body replaces lost muscle with fat. Reduced muscle mass limits the child’s physical abilities.

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What Causes Muscular Dystrophy In Children?

The fundamental cause of muscular dystrophy is faulty genes. The defective genes can be inherited from one parent or both. In some cases, a defective gene may arise due to spontaneous mutation within the DNA.

A few muscular dystrophy types occur due to X chromosome gene defect while others happen due to defects in any chromosome (2).

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What Are The Types Of Muscular Dystrophy In Children?

There are more than 30 types of muscular dystrophy diseases. Not all of them happen in children. Here we cover the common types of muscular dystrophy in kids (3) (4):

TypeCause and occurrenceOnset of symptomsPrognosis
Duchenne muscular dystrophy
  • Gene on X chromosome
  • Most common — accounts for 50% of the cases (5)
  • Mostly affects boys – one in 5,000 male births (6)
  • Less occurrence in girls; as they have two X chromosomes, the healthy X chromosome overrides the defective one
  • Start showing between 2-6 years
  • By 12 years, the child may not be able to walk
  • Respiratory and heart muscle failure by late teens or early 20s
  • Those with DMD may live to their 50s with right medical management (7)
Becker muscular dystrophy
  • Mostly affects boys
  • 3-6 cases in 100,000 births (8)
  • Mild symptoms
  • Begins in adolescence
  • Average life expectancy is the 40s (9)
Congenital muscular dystrophy
  • Rare compared to other types of MD
  • Present at birth
  • Less than three cases in 100,000 births (10)
  • Symptoms show right at birth
  • Most children may not survive adolescence (11)
Emery-Dreifuss muscular dystrophy
  • Defective gene on X or Y chromosome
  • X chromosome version of the disease affects about 1 in 100,000 people (12)
  • Symptoms emerge around ten years of age (13)
  • Chances of heart failure by the age of 30
Facioscapulohumeral muscular dystrophy
  • Autosomal dominant — unhealthy gene from one parent overrides the healthy one from the other parent (14)
  • Affects one in 20,000 people (15)
  • Symptoms appear anytime during childhood
  • Mostly affects muscles of the face, shoulders, and upper arms
  • Prognosis of the disease is positive
  • Life expectancy is normal
Limb-Girdle muscular dystrophy
  • There can be 20 sub-types of Limb-Girdle MD (16)
  • Affects about one in 14,500 to 123,000 individuals (17).
  • Symptoms usually begin showing around late childhood
  • Primarily affects the muscles around the hips and the shoulders
  • Life expectancy could be more than other forms of muscular dystrophy

A few other types of muscular dystrophy, such as distal, myotonic, and oculopharyngeal, usually occur in adults and symptoms seldom appear in childhood.

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What Are The Symptoms Of Muscular Dystrophy In Children?

The symptoms depend on the type of muscular dystrophy and the muscle group affected. Most display similar, overlapping symptoms. The following are the general symptoms of muscular dystrophy in children (9):

  1. Missed developmental milestones and abnormal muscle development. One of the earliest symptoms of MD is not meeting the physical developmental milestones on time. So the child will take longer to sit, crawl, and walk.

The child might also have abnormal muscle growth. For instance, children with Duchenne muscular dystrophy display unusual growth in their calf muscles as the body replaces the lost muscle with fat; the muscle could be two to three times larger than that of a healthy child.

  1. Progressive muscle weakness and wasting. A gradual loss of muscle tone is evident from slim or awkwardly shaped muscles. The child will also complain about weakness and have trouble performing movements with muscles.
  1. Clumsy body movements. The walk might resemble a waddle. The child might walk on their toes rather than put the entire sole on the ground. Other movements like throwing a ball may appear unusual.
  1. Trouble performing simple tasks. It is one of the tell-tale signs of the condition. Children with MD have a hard time climbing stairs, getting up from a chair, jumping, hopping, skipping, or shrugging shoulders. The child finds it difficult to easily get into a standing position from a sitting or lying position on the floor. They slowly stand up with the support of their hands and knees.
  1. Muscle pain and cramping. The child will complain of pain in muscles usually after performing a demanding activity. They might also have frequent muscle cramping.
  1. Repeated falling. Weak muscle tone might make the child fall frequently unable to maintain the right body posture and stability.
  1. Weakness in facial muscles, problem closing eyelids. The child might have these symptoms when dystrophy occurs in the facial muscles. Among the first signs is the inability to drink from a straw or whistle. The face usually appears expressionless. They may have problems making even simple expressions like smile and wink.
  1. A curvature of the spine, and limbs pointing inwards. Poor muscle tone impacts the skeletal structure leading to problems such as curving of the spine (scoliosis) and awkward positioning of limbs like the toes pointing inwards.
  1. Breathing and heart problems. Respiratory and heart issues usually arise when muscle degeneration intensifies. Children may not be able to breathe without the breathing apparatus. The heart muscles are affected, making it weak.

The symptoms are visible and parents can notice the changes in their child. In such cases, take the child to a doctor for a diagnosis.

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How Is Muscular Dystrophy Diagnosed?

A doctor may use the following steps to diagnose muscular dystrophy in children (4):

  1. Physical examination: The doctor will examine the symptoms of the child. Children with muscular dystrophy have trouble performing simple tasks. Therefore, the doctor may ask the child to perform some actions. They will also check the muscle tone, curvature of the spine, and overall body posture.
  1. Electromyogram (EMG): The test measures the electrical activity of the muscle. Anomalies in the test can indicate muscle damage.
  1. Electrocardiogram (ECG): It checks the function of the heart muscles since they are quite commonly affected in some forms of muscular dystrophy.
  1. Blood test: The doctor will check for the level of the compound called serum creatine phosphokinase (CPK). High CPK levels in the blood point towards muscle weakness. Genetic testing will check for the presence of defective gene/genes that have led to MD.
  1. Muscle biopsy: A tissue from the body is collected for laboratory analysis. Muscle biopsy is mostly not needed due to improvement in other diagnostic techniques.

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Can Muscular Dystrophy In Children Be Treated?

There is no treatment or cure for muscular dystrophy because it is a genetic condition and the cause of the problem is in a faulty gene (18). Medications only help in managing the condition.

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How To Manage Muscular Dystrophy In Children?

Here is how you can manage MD in children (7):

  1. Physical therapy: The child will have to see a physiotherapist regularly for specific therapeutic exercises. Inactivity and overexertion can both accelerate muscle wasting. Therefore, your child’s doctor might recommend a pediatric physiotherapist who specializes in providing therapy to children with muscular dystrophy. Exercises include body movement and breathing exercises, which help slow the rate of respiratory muscle degeneration.
  1. Tools and aids: Support aids and orthopedic appliances can help the child perform daily tasks like standing, sitting, climbing stairs, etc. Braces attach to the body and apply gentle pressure to correct conditions like scoliosis (curvature of the spine). Older children may need wheelchairs for movement.

You may check if such equipment is provided at a subsidized cost by related associations and organizations in your region. Parents can ask their child’s doctor or contact their local muscular dystrophy association and learn more about the equipment that can help improve their child’s life.

  1. Medicine: The doctor may recommend corticosteroids to slow down the rate of muscle degeneration. Your child may also get precautionary medication to prevent the condition from progressing to the heart muscle. These medicines are often given as part of a medicine course that slows down disease progression and improves life expectancy.
  1. Nutritional and psychological counseling: The child could require a specialized diet to help mitigate the effect of muscle wasting. A pediatric dietician can help you with this. The child and the parents may also need counseling to deal with psychological stress. Muscular dystrophy may cause some cognitive impairment, but it is manageable and does not worsen even if the condition progresses.

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Can You Prevent Muscular Dystrophy In Children?

There is no way to prevent muscular dystrophy in children since it is a genetic disorder. If parents have a known family history of the condition, then they can consider getting a genetic test done to know if they are carriers, and plan their family accordingly.

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Parents can help the child realize that their physical restraints do not limit their thoughts. Those with muscular dystrophy can attend school, college, and study. Life expectancy of those with muscular dystrophy has increased over the years while the improvement in support technology and physical therapy has reduced limitations caused by the condition.

Do you have an experience to share? Do tell us about it in the comment section below.

References:

1. Muscular Dystrophy; University of Illinois Hospital
2. Muscular dystrophy: basic facts; University of Georgia
3. Types of Muscular Dystrophy and Neuromuscular Diseases; University of Rochester
4. Muscular Dystrophy; Children’s Hospital of Wisconsin
5. Quality improvement in neurology; American Academy of Neurology
6. CRISPR halts Duchenne muscular dystrophy progression in dogs; University of Texas
7. Duchenne Muscular Dystrophy (DMD); Muscular Dystrophy Association
8. Becker muscular dystrophy; U.S. National Library of Medicine
9. Becker Muscular Dystrophy (BMD) in Children; University of Rochester
10. E. Bertini et al.; Congenital Muscular Dystrophies: A Brief Review, National Center for Biotechnology Information
11. Congenital muscular dystrophy type 1A, U.S. Department of Health & Human Services
12. Emery Dreifuss Muscular Dystrophy, National Organization for Rare Disorders
13. Emery-Dreifuss Muscular Dystrophy in Children, University of Rochester
14. Facioscapulohumeral muscular dystrophy, U.S. Department of Health & Human Services
15. Facioscapulohumeral muscular dystrophy, U.S. National Library of Medicine
16. Limb-girdle muscular dystrophy, U.S. Department of Health & Human Services
17. Limb-girdle muscular dystrophy, U.S. National Library of Medicine
18. Muscular Dystrophy; U.S. National Library of Medicine

 

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Rohit Garoo

Rohit Garoo took writing as a profession right after finishing his MBA in Marketing. Earlier he graduated with a Bachelor’s degree in Botany & Zoology from the autonomous St. Xavier’s College in Mumbai. Rohit has also done a Stanford University certification course on breastfeeding. This botanist-zoologist turned writer excels at life sciences, and at MomJunction he writes everything about pediatrics and maternal care. In between writing and being overly curious, he spends time cooking, reading, and playing video games. LinkedIn profile – linkedin.com/in/rohit-garoo-263115aa
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