Congenital Muscular Dystrophy in Babies – Causes, Symptoms and Treatment

1. Degeneration and weakness of muscles
2. Delayed milestones related to walking and sitting
3. Weak muscle tone
4. Deformation of joints or tissues

This condition can impact various muscles in the body, weakening them and can further result in not being able to control the movement in the affected areas.

This can be seen around the birth time and increases with growth. It can obstruct mobility and result in breathing, feeding and brain ailments.

[Read : Developmental Delays in Babies]

9 Different Types of Congenital Muscular Dystrophy

Muscular dystrophy can be seen in many forms that can be in different parts of the body, with varying intensities.

1. Duchenne Dystrophy

This is primarily seen in children between two and eight years of age. It weakens and reduces the size of the muscles. Its deterioration is quite intense, so much that a child might need a wheelchair by the time they are into their teens. It can result in the deformation of limbs, and problems with the heart and breathing. It can reduce the life expectancy to early adulthood only.

2. Myotonic Muscle Dystrophy

This is common for all genders and can be seen at any stage in life. It stiffens the muscles and is mostly seen in people who stay in colder regions. It can affect the eyes and sometimes the complete nervous system too.

3. Limb-Girdle Dystrophy

As indicative of the name, it affects the limbs and leads to walking issues. It continually makes the muscles and other areas like hips, legs, arms etc., weak enough. This affects all genders. It can lead to kids needing wheelchair by the time they turn 20 years.

4. Becker Dystrophy

This is a milder side of dystrophy, which only affects male babies. The symptoms are less intense when compared to Duchenne dystrophy. This even shows heart ailments but with less severity.

5. Facioscapulohumeral Dystrophy

Under this type of dystrophy, weakness sets in the muscles of the shoulders and upper arms, predominantly the facial structure. The weakness differs and there are times it’s very evident the times when it is not so visible. It is not life-threatening but results in issues when talking or eating.

6. Oculopharyngeal Dystrophy

This affects the eyes as well as the throat region. This is seen with adults who are 40 years and above. IF severe, it can result in choking food and pneumonia.

7. Congenital Dystrophy

This is the result of the deficiency of myosin. This is seen post-birth or in the early stages of the life of a baby. It can affect weakening and losing muscle mass or even affect seizures and the brain.

8. Emery Dreifuss Dystrophy

It is mostly seen in teenage males. This is genetic and results in muscle weakness, affecting shoulder, legs etc. It can even lead to heart issues. Major source for this is either a female sibling or the mother.,

9. Distal Dystrophy

A rare form of dystrophy which affects the middle part of the limbs. This results in restrictions in movements.

Causes and Risk Factors For CMD

The term “congenital muscular dystrophy” indicates the muscular and skeletal disorders that lead to weakness of muscles and loss of muscle mass as well. This is usually seen in babies but in some cases the symptoms become only visible once the child grows. Some causes for this situation to arise are as below:

• This happens genetically and is carried from the parent to the child.
• It can also be the result of central nervous system strokes and related issues.
• Duchenne dystrophy is the result of a defective gene due to which protein dystrophin cannot be secreted.
• This is due to chromosomal defect and the X chromosome is the active one.
• It can also be the result of any abnormality or a mutation as well.

Symptoms of Congenital Muscular Dystrophy in Babies

The baby with congenital muscular dystrophy has problems with muscles and other parts of the body being stiff. This can result in mobility, feeding, breathing issues. Apart from that, some more symptoms given below can be seen as well.

• Increasing weakness in the muscles
• Muscle disintegration
• Decrease in the muscle tone
• Floppiness in limbs
• Limited movement in joints
• Reduced frequency while waving and kicking
• Problems when rolling or trying to raise head
• Difficulty in achieving milestones especially while sitting or standing without support
• Feeding issues
• Difficulty while breathing
• Basic brain disorders
• Learning disability while growing
• Defects in eyes
• Rigidity in the spine
• Issues with the spinal cord

[Read : Breathing Problems in Babies]

Diagnosis of Congenital Muscular Dystrophy in Babies

Congenital Muscular Dystrophy condition which gets passed to the infants genetically. There is no set cure for the same, yet its diagnosis can be done in several ways:

• Using imaging methods like MRI to detect the uncharacteristic nystagmus
• A thorough pediatric check-up to rule out any systemic issues.
• An ophthalmic check-up to check any abnormalities resulting in sensory nystagmus
• Electroretinogram examination to rule out any chances of retina or optic malfunction.

The steps below help in diagnosing congenital nystagmus in babies

• Complete physical check-up
• Family history
• Assessment of Creatine Kinase levels in the blood through blood tests, the higher the levels, the higher are the chances of muscle injury
• Biopsy of muscles to ascertain any underlying disease
• Studies related to nerve conduction to detect the weakened areas
• MRI of the brain to detect any basic defects in the functioning of the brain
• Genetic testing

Treatment For CMD in Babies

Medical science has still not been able to provide any cure for the increasing muscle weakness. Muscular dystrophy in kids can have varying intensities, some which impact the life expectancy while others which do not. It is thus mandatory to have an atmosphere that the child is comfortable in and does not feel left out. Treatment requires medicines and therapies. Extreme cases might require surgical intervention as well.

This condition is untreatable and keeps progressing as well. Different methods can focus on, and improve the lifestyle

• Medicines that offer relief.
• Behavioral therapy for cognitive function disorders.
• Physical therapy for strengthening the weaker muscles.
• Counselling of babies for diet and nutrition in case of feeding issues
• Respiratory therapy to deal with breathing disorders.

The treatment is managed by a team which has neurologists, pediatric surgeons, pediatricians, cardiac specialists, speech pathologists and many other healthcare specialists coming together from varying departments.

When to See a Doctor?

If any child has congenital muscular dystrophy, it is important to keep the doctor informed. It is however important to consult a doctor in case the symptoms worsen, or any new symptoms are seen. Some of these are:

• Choking issues
• Feeding issues
• Swallowing problems
• Any symptoms of respiratory infection
• Pain in the muscles
• Increase in floppiness

Congenital muscular dystrophy is a lifelong disease and has no cure. This is genetic, inherited by parents and cannot be cured by changing the diet. One can only reduce the chances of obesity by controlling the diet as it shows in the form of weakness in muscles and flabbiness in a newborn. This can be treated by medicines or relief therapy that also helps in improving the strength of the muscles.

FAQ’s

1. What Should I Do if My Baby is Diagnosed With Muscular Dystrophy?

Muscular dystrophy is due to genetic reasons, so in case the family has a history of this condition, it is best to undergo testing or genetic counselling before planning a baby. If the baby has CMD, regular medical visits are a must. It is important to connect with a few support groups as psychosocial support works the best during this time.

2. How Does Muscular Dystrophy Affect a Infant’s Finances?

The medical costs keep surging for any child who has been diagnosed with this condition. Since it obstructs and reduces mobility and needs regular therapies and other medical equipment, unexpected costs are there as well as all expenses are not covered under insurance.

3. When to Know if Your Child Has Muscular Dystrophy?

The diagnosis for the same is done when the child is five years of age. Parents can, however, start noticing the abnormalities when the child is unable to walk, run or jump at 2.5 years or so. It is not common and muscle weakness is apparent at birth or in the initial years.