Duchenne Muscular Dystrophy



(Duchenne Muscular Dystrophy / Becker Muscular Dystrophy / Limb-Girdle Muscular Dystrophy)
Muscular dystrophy (MD) is a genetic disorder described as progressive muscle weakness. It primarily affects boys.

Forms of Muscular Dystrophy
Nine Major forms of muscular dystrophy have been identified. These are

  • Duchenne
  •  Becker
  •  Limb-Girdle
  •  Myotonic
  •  Fascioscapulohumeral
  •  Distal
  •  Oculopharngeal
  •  Congenital
  •  Emey-Dreifuss

Duchenne Muscular Dystrophy (DMD)
DMD is inherited in an X-linked recessive pattern. Females typically are carriers of the genetic trait while males are affected. DMD is extremely rare in female.

Prevalence / Incidence
1 in 5000 male live birth

Signs / Symptoms of DMD

  • Signs usually appear before age five, and may even be observed from the moment a boy takes his first steps.
  • Some infant patients are silent and move very little while still in the cradle.
  • In most cases though the first clinical signs appear when the child shows delayed motor development. He is late sitting, standing and walking and when he does begin to walk, he often falls.
  • The parents notice how difficult it is for the child to get up from the floor / ground again once it has fallen.
  • As many of the children will have flat feet as well.
  • The time between the first consultation and establishing the correct diagnosis can vary from 0-8 years, with an average of 3 years. Mostly by the time the child's mean age is 6 years.
  • A child with DMD stands with its abdomen forward and has hyper-lordosis. Pseudo-hypertrophy of calf muscles and hyperextension of the knees are very common signs. Gower sign is observed in most of the children with DMD
  • While neurological examination it shows more weakness in the pelvic girdle and in the muscles of the shoulder girdles.
  • Many of the children with DMD will continue to walk and climb stairs reasonably well until they are 8 years old.
  • By about the age of 11 years most children with DMD require a wheelchair.
  • Sometimes a serious kypho-scoliosis develops b he age of 10-11 years.
  • Cardiomyopathy occurs in over 80% of the children with DMD.  
  • About half the children with DMD will have low intelligence / IQ. In most of the cases, muscle weakness gets worse over time.
  • Toe walking and waddling gait is common in DMD

Causes of DMD
Children with DMD have broken dystrophin. Dystrophin is a protein.  This protein normally keeps muscles strong and protects them from injury. Although the cause of the disease is unknown, there are three theories about its pathogenesis, namely

  • Myogenic or membrane theory
  • Vascular theory
  • Neurogenic theory

Associated factors with DMD
Children with DMD also have a number of co-morbid conditions such as Learning Disability, Visual Disorders, Hormonal Disorders, Obesity, etc

Diagnosis making of DMD
As DMD is a progressive disorder, it is very important that the diagnosis is established with as much certainty as possible. The diagnosis has far reaching consequences on the entire family and the patient itself. The following examinations are necessary to have the diagnosis

  • Determination of serum Creatine kinase
  • The doctor will take a sample of your child’s blood and test it for creatine kinase, an enzyme that your child’s muscles release when they are damaged. A high CK level is a sign that your child could have DMD.
  • Muscle biopsy, EMG and NCV
  • Using a needle, the doctor removes a tiny piece of your child’s muscle. It will be looked under a microscope to check for low levels of dystrophin, the protein that is missing in people with DMD.
  • ECG, etc
  • DMD is diagnosed in young boys based on clinical examination, signs and symptoms, family history, and may be confirmed by the results of genetic testing.

Treatment / Management of DMD
Thanks to advancement in many areas of medicine, such as cardiology (Heart related) and pulmonology (Lungs related), people with Duchenne muscular dystrophy (DMD) in the 21st century are living longer than in previous decades, often well into adulthood, beyond the age of 30 years also. DMD treatment requires multidisciplinary care to coordinate the multiple specialized assessments and interventions needed to maximize function and quality of life for the affected individuals.
The use of available standard treatments can help to maintain quality of life, functional ability and prolong life. We can help create individualized care plans regarding all medical and assistive aspects DMD patients require.

  • Specialists who are involved in the care of DMD children at our organization includes
    Neurologist (Brain related)
  • Orthopedist (Bone and Joints related)
  • Cardiologist (Heart related)
  • Pulmonologist (lung specialist)
  • Endocrinologist (Hormone related)
  • Gastro-enterologist
  • Medical geneticist
  • Physiotherapist
  • Occupational therapist
  • Psychologist

Role of Medicines in the management of DMD
No established single drug is available which can cure DMD. But medicine definitely helps to improve the quality of life of the affected individual. The following medicines have been approved to treat DMD as orphan drugs

  • Deflazacort  for patients 5 years and older in age
  • Eteplirsen  for patients who have a confirmed mutation of the DMD gene 
  • Golodirsen  for patients who have a confirmed mutation of the DMD gene

Other than these medicines, lots of medicines are needed to manage gastro-intestinal, Lungs oriented, heart related, pain related and hormonal related disorders

Role of physiotherapy and Occupational Therapy
Physiotherapy is considered the backbone of the whole treatment / management. Physiotherapy helps not only to keep the joints aligned and Full range it also helps to maintain and gain muscle strength. Chest physiotherapy and mobility management help to improve the quality of life
Due to muscular weakness, ultimately it becomes very difficult for the affected individual to manage Activities for daily life (ADLS), here occupational therapy plays an important role.

Role of Assistive Technology (Splints / Braces / Postural Aids / Mobility Aids / Appliances)

  • AFO / KAFO / HKAFO

Individuals with DMD may require the support of AFO / AKAFO / HKAFO to maintain the Hip-Knee-Ankle joints in alignment and complete range of motion. AFO and knee immobilizers are prescribed as night splints and supporting mobility

  • Customized Chair and Standing Frame

Standing for a few hours each day, even with minimal weight bearing, promotes better circulation, healthier bones, and a straight spine. A standing frame helps people with DMD to stand

  • Mobility Aids ( Wheel chair)

Sooner or later, a wheelchair is needed in DMD, typically by about age 12. All wheel chairs should be customized and modified according to the need of individual as open market wheel chairs may be unfit and discomfort for the individuals.

  • Role of Orthopedic Surgery

Orthopedic surgery helps if there are any deformities at ankle / knee / hip joints. Mostly ankle joints require surgical procedure to keep the foot in alignment

  • Role of Stem Cell and Gene Therapy

Stem cell based therapy and gene therapy hold very promising role in the management of DMD but slow and limited research is the main obstacle in developing a concrete standard procedure. Present evidences are not supporting the use of these therapies in the management of DMD.   

  • Role of Complementary and Alternative Medicines

A number of alternative medicines are being used to treat varied symptoms of DMD, with satisfactory improvements. Please note, complementary and alternative medicines can’t cure DMD but can help in managing the associated disorders.

Prognosis and outlook of DMD
 Life expectancy is estimated to be around 25-26, but this varies. With excellent medical care males often live into their 30s.

Connect us to know more about DMD and its management
Mail: helpicd@gmail.com
Whatsapp: +91-7838809241
Voice Call: +91-11-41012124

Reviews

Well planned assessment was done to diagnose mild ASD and a proper plan was created. Thanks for helping us to plan for our child growth..”

-Anshuman Mishra,
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