Disorder

Genetic Disorder Case Study: Helping an 11-Year-Old with Duchenne Muscular Dystrophy

Written By

Dr. Amar Shinde

Last Updated on: 23 Jun 2025

Patient Information:

• Age: 11
• Gender: Male
• Background: Lives with parents and older brother; attends a regular school. Middle class, no family history of muscle disorders.

History or Cause:

At age 3, the child was unable to run and, when trying to climb stairs, he would often fall and have to use his hands to help him get back on his feet. His parents thought he was simply slow to develop.

By age 5, the signs were becoming more pronounced. He walked on his toes and had difficulty getting to a standing position after sitting. At this point, there were indications of a muscle disorder, and the doctor recommended genetic testing. The reports confirmed that the child had Duchenne Muscular Dystrophy (DMD), a rare genetic disorder caused by a defective gene.

Knowledge of the Disorder:

Duchenne Muscular Dystrophy (DMD) is a genetic and progressive disorder primarily affecting boys. Muscles appear to become progressively weaker because the body is missing dystrophin, a protein that stabilises muscle and keeps it strong.

Kids with DMD usually show symptoms between the ages of two and six. As the disorder progresses, simply walking, moving their arms and/or breathing becomes gradually more difficult. There is no cure for DMD, however, an early diagnosis of the disorder paired with good care can be beneficial for slowing the disease process, therefore allowing for a better quality of life for the child.

Difficulties Before Treatment:

The family was in distress before arriving at Jagruti Rehab. The child needed help to perform basic tasks like buttoning his shirt, brushing his teeth, and climbing out of his bed. He also became tired very easily. He stopped participating in sports and stopped playing with his friends. 

The child felt lonely. He felt he was different from other kids, especially when he was avoiding school and became quiet. His parents worried about what was happening and felt helpless in managing the child. They found Jagruti Rehab and began to feel that there was hope!

Diagnosis:

The child underwent numerous tests:

• A physical exam revealed muscle weakness, especially in the legs and arms.
• Blood tests revealed high levels of creatine kinase (CK), which indicated muscle damage in the body.
• Genetic testing confirmed the mutation that resulted in the absence of dystrophin.
• Muscle biopsy and EMG excluded other possibilities and confirmed DMD.

Treatment:

Direction:

• Ultimately, the purpose of Jagruti Rehab is to ensure that the child’s quality of life is as good as it can be. Although the disorder is irreversible, therapy and therapy services can help keep children active for longer (not being sedentary) and give them the tools to cope with their symptoms.

Program:

• A unique rehabilitation plan was developed that had multiple departments working together:
• Physiotherapy kept the child moving
• Occupational therapy taught the child with Activities of Daily Living
• Speech-Language Pathology provided therapy for initial swallowing and speech concerns
• Counselling and Education provided support not only to the child but the family as well

Medical Treatment:

• Prescribed Steroids to prevent fast muscle breakdown and damage
• Calcium and Vitamin D for bone health 
• Heart and Lung monitoring by specialists
• Nutritional support for weight management and energy levels

Therapy:

• Physical Therapy: emphasises stretching and safe exercises. 
• Occupational Therapy: taught skills in dressing, grooming and eating. 
• Speech Therapy: provided breathing techniques and future planning. 
• Counselling: weekly sessions to support emotional health. 
• Family Counselling: helped parents understand how to support their child at home.

Improvements / Recovery Timeline:

Weeks 1-2:

• Assessment and treatment plans initiated
• Gentle physical therapy builds trust and comfort
• The child was supported emotionally by the child and parents

Weeks 3-4:

• Walking and balancing improved
• More purposeful use of both hands and arms for activities of daily living
• Started expressing feelings in group therapy

Weeks 5-8:

• Posture and endurance improved overall
• The child started to show interest in activities such as art and music
• We're less reliant on them for assistance with activities of daily living, habit routines

Weeks 9-12:

• The child improved back to a confident self at school
• Formed new friendships in group therapy
• The family formed a strong care routine at home

Long-Term Management Plan:

Once the 12-week rehab period is complete, care should continue. The child is now on a:

• Home exercise program outlined by the physiotherapist
• Monthly reviews for the heart and lungs
• Speech and occupational therapy weekly
• Counselling sessions are used online for emotional support
• School support plan with breaks/changes in activities

The parents also keep in regular contact with Jagruti Rehab's support group and have a personalised care calendar.

Our Success:

Difference in the Child:

The child regained his confidence and can now do most things alone. He is smiling more and taking part in school and art classes again. He appears to control his energy levels better and knows how to plan breaks.

Impact on the Family:

Both parents reported lower levels of stress and a feeling of preparedness. They experienced a sense of feeling supported and not feeling alone. They also became part of the Jagruti Rehab family and have continued to attend rehab sessions regularly to maintain familiarity with the condition. 

The brother, who had previously been quite passive and uninvolved, also got involved. He began supporting his sibling to perform the exercises, and he also played therapy-based games. The family has a greater sense of connection, hope, and strength. 

Why Should You Choose Jagruti Rehab?

Jagruti Rehab recognises that genetic disorders such as DMD involve external support and long-term care of the individual. Our Jagruti Rehab Centre offers:

• Experienced and qualified doctors and therapists
• Tailor-made therapy plans that take the individual's and family's goals into consideration 
• Education and counselling of families
• Child-friendly activities and environment 
• Support services that go beyond treatment

We believe every child is entitled to have a dignified living status, no matter what condition they face. Jagruti Rehab Centre team works collaboratively with parents and caregivers to foster a vision for a better tomorrow. 

Bottom Line

This genetic disorder case study indicates that even a challenging condition such as Duchenne Muscular Dystrophy can be managed so long as appropriate care is provided for the individual. The 11-year-old boy is now leading a better quality of life with joy and more activity. Jagruti Rehab is proud to support him and many more just like him - step by step, with care, hope and trust.

Dr. Amar Shinde

Dr. Amar Shinde, founder of Jagruti Rehab, is a renowned psychiatrist in India with over two decades of experience in mental health, addiction recovery, and neuropsychiatry, dedicated to holistic, compassionate patient care.