Congenital Muscular Dystrophy: Causes And Symptoms

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The term “muscular dystrophy” refers to various skeletal muscular disorders that cause muscle weakness and muscle wasting (loss of muscle mass) (1). While some muscle dystrophies may appear in children, some are not apparent until maturity. Muscular dystrophy in babies, also known as congenital muscular dystrophy (CMD) can occur in early childhood (before the age of two) (2).

Learn about the various types, symptoms, causes, and risk factors of congenital muscular dystrophy, as well as how it can be diagnosed and treated in babies.

Causes And Risk Factors For CMD

CMD happens due to an abnormal gene that may be inherited from either of the parents (1 ). Genes for muscular dystrophy can pass even when parents are asymptomatic. Various gene abnormalities can cause a baby to be born with muscular dystrophy. There are 30 identified types of congenital muscular dystrophy classified based on the specific gene involved.

According to the National Organization for Rare Disorders, CMD affects males and females equally. However, the exact incidence and prevalence of CMD are unknown (3).

Symptoms Of Congenital Muscular Dystrophy

Babies with congenital muscular dystrophy begin to exhibit any of the following symptoms early in their lives (2).

  • Reduced muscle tone (hypotonia)
  • Progressive muscle weakness
  • Muscle degeneration
  • Restricted joint movement (joint contractures)
  • Babies appear floppy when lifted in arms
  • Lesser frequency and intensity of spontaneous movements such as kicking or waving
  • Difficulties in raising head or rolling over
  • Delays in reaching milestones such as sitting or standing unassisted
  • Feeding difficulties
  • Respiratory complications
  • Structural brain defects
  • Evident learning disabilities with increasing age
  • Spinal curvatures
  • Spinal rigidity
  • Respiratory insufficiency
  • Eye defects
  • Seizures

Diagnosis Of Congenital Muscular Dystrophy

The following steps are included in the diagnosis of muscular dystrophy in babies (2).

  • Family history
  • Physical examination
  • Nerve conduction studies and electromyography (EMG) might be performed to pinpoint the origin of weakness.
  • Blood tests may be done to assess creatine kinase (CK) levels in the blood. Creatine kinase leaks from damaged muscle. Elevated CK levels pinpoint to a damaged muscle.
  • Muscle biopsy may be performed to identify the disease that is causing CK elevation.
  • MRI of the brain (magnetic resonance imaging) may be performed to check for structural brain defects.
  • Genetic testing may be performed to check the baby’s genes for particular defects in the genes that cause CMD.This is also helpful when planning future pregnancies.

Treatment For CMD In Babies

CMD is a progressive and untreatable condition. Treatment of CMD is symptomatic, focuses on improving the quality of life, and includes the following (1).

  • Medicines for relief from symptoms
  • Physical therapy to strengthen the weak muscles
  • Respiratory therapy for breathing difficulties
  • Occupational therapy to help with the issues of swallowing
  • Behavioral therapy to help with the cognitive function
  • Diet and nutrition counseling for babies with feeding difficulties

The management of CMD is a multidisciplinary approach. A team of pediatricians, pediatric neurologists, pediatric surgeons, orthopedics, cardiac specialists, ophthalmologists, psychiatrists, speech pathologists, and other healthcare professionals are involved in the process.

Parents may also contact local CMD support groups or organizations that can provide more information on the management of the condition. Support groups may also provide you details related to therapists that specialize in physiotherapy for babies with CMD. You may also find more information about mobility-related equipment, such as walkers or wheelchairs, that the babies with CMD may need as they grow older.

When To See A Doctor?

If your child has any type of muscular dystrophy, always be in touch with your doctor. But you must contact the doctor if you notice any worsening of the existing symptoms or new symptoms such as:

  • Signs of respiratory infection
  • Feeding problems
  • Choking
  • Problems with swallowing
  • Muscle pain
  • Increased floppiness

Frequently Asked Questions

1. How many babies are born with muscular dystrophy?

According to CDC estimates, around one in one lakh, populations may be affected by congenital muscular dystrophy (CMD) (4).

2. What is the life expectancy of someone with congenital muscular dystrophy?

Most children with CMD may recover with early evaluation and multidisciplinary support. However, life expectancy largely depends on the severity of the defect and the noticeable characteristics concerning the abnormal protein (5).

Muscular dystrophy in children, also known as congenital muscular dystrophy, is a lifelong illness caused by genetic defects in the parents. It shows up as muscle weakness or increased floppiness in the newborn, as well as feeding and mobility issues. Treatments include medications for symptomatic relief and therapies for improving muscle strength. Before getting pregnant, parents with a family history of muscular dystrophy should get genetic counseling and testing. If your child is diagnosed with CMD, you may need to seek medical help frequently. Connect with various support groups since psychological support is beneficial to the entire family.

Key Pointers

  • Muscular dystrophy is a disorder in the skeletal muscles, causing weakness and loss of muscle mass.
  • Congenital muscular dystrophy in babies may occur due to the inheritance of an abnormal gene from either of the parents.
  • You may notice signs such as reduced muscle tone, weakness, muscle degeneration, feeding difficulty, and eye defects.
  • It can be treated with the help of medicines, physical and respiratory therapy, diet, and nutritional counseling.

References:

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Dr. Ritika Shah

Dr. Ritika Shah is a certified lactation counsellor from iNational Health Care Academy, Singapore and a dental surgeon with more than seven years of clinical experience across various cities in India. She did her graduation in Dentistry from KM Shah Dental College. During her clinical practice, pediatric dentistry was her particular area of interest, and she constantly thrived to inculcate... more

Dr. Garima Garg Seth

(MD)
Dr. Garima Garg Seth is a well-known pediatrician in Gurgaon, having more than 19 years of experience in this field. She has completed her education from topmost organizations in India, including AIIMS, New Delhi; Sir Ganga Ram Hospital, New Delhi; and CMC Vellore. She headed the pediatric ICU of Max Hospital Gurgaon for six years.  Dr. Seth is a strong... more

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