Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disease associated with severe, progressive, muscle weakness that worsens with time. DMD primarily affects boys, whereas it can affect women in rare cases. DMD symptoms include progressive musculoskeletal and cardiac muscle weakening and atrophy. Early symptoms may include difficulty running, climbing stairs, walking, as well as intellectual or learning disability.

DMD is induced by a faulty gene dystrophin (a protein in the muscle cells). DMD is inherited in an X-linked recessive pattern and can appear in people with no family history of the disease. DMD is diagnosed based on symptoms, clinical examination, and biopsy. The results of genetic testing may also help in the confirmation of the diagnosis.

Symptoms

Duchenne muscular dystrophy is a disorder that affects the skeletal muscles in the body. The early symptoms are:

Delayed walking
Difficulty while jogging, climbing stairs and getting up.
Shortness of breath
Pseudohypertrophy of calf muscles.
The poor balance increases the likelihood of falling.
Walking on the toes is a result of tightness in the tendons of the leg and foot.
Muscle degeneration in duchenne is not associated with discomfort, although muscle rigidity and cramping can be painful.
As a result of muscle weakness in the legs, children with duchenne commonly use the Gower's maneuver to stand from the floor.
Individuals may push off the floor with their hands and then 'walk' their hands up their legs.

When to see a doctor?

Consult the doctor if the symptoms of Duchenne Muscular Dystrophy are suspected.

Causes

DMD is a genetic disease, those who inherit it have a defective gene known as dystrophin which is a muscular protein. In case of this condition, the gene that makes a protein called dystrophin is broken. This protein typically keeps muscles strong and protects them from injury. Boys are more likely to develop this condition than girls. In rare cases people who don't have a family history also suffer from DMD when their genes develop mutations.

Risk Factors

DMD being in the family history is a risk factor. A person can carry the condition silently, meaning that a family member might have a copy of the faulty gene yet not get DMD. The gene can sometimes be passed down for generations before affecting a kid.

Complications

Common complications in patients with DMD include:

Cardiac:

Orthopaedic problems:

Osteopenia
Joint contractures
Scoliosis

Pulmonary:

Pulmonary infections
Respiratory insufficiency with decreased total lung capacity, decreased residual lung volume

Steroid treatment problems:

Behavioral changes
Cushingoid appearance
Bone demineralization
Hirsutism
Growth suppression
Weight gain

Miscellaneous

Aspartate aminotransferase (AST) elevation
Mental retardation
Renal stones secondary to bone demineralization

Preventions

DMD cannot be prevented since it is inherited from the mother. Geneticists are investigating technologies that may be able to prevent the defect from being passed down, but no viable remedy has been developed. Before conception, genetic testing can establish whether a couple is at a higher risk of having children with DMD.

Diagnosis

Regular medical examinations may detect symptoms of muscular dystrophy.

Blood testing:

These include genetic blood tests, showing the gene mutation causing lack of dystrophin in around two-thirds of males with DMD.

Muscle biopsy:

A small sample of muscle tissue examined under a microscope can determine the diagnosis in children with clinical evidence of DMD.

Electromyogram (EMG):

This test determines whether the child's muscular weakness is due to muscle tissue degeneration or than nerve injury.

Electrocardiogram (ECG or EKG):

A genetics counselor examines the risk factor of this neuromuscular disorder within each family and advises genetic testing for various family members, including the affected kid, and perhaps carrier testing for the mother.

Treatment

DMD treatment aims to minimize symptoms and keep the kid healthy. While there is currently no cure for this disorder, experts are working worldwide on medicines that might significantly improve neuromuscular disorder.

Physiotherapy and occupational therapy:

The kid will need help from a skilled physiotherapist. Physiotherapy is essential for keeping the kid active, healthy, and comfortable. The physiotherapist may design a regimen that includes active and passive stretching, aided stretching, and muscular elongation exercises. Splinting, orthotics and standing devices can also assist the child in being active for extended periods.

Regular medical care:

A neurologist, orthopedics or a pediatrician will examine the child's strength and general physical well-being, check for scoliosis, and monitor the child's breathing and heart function. Surgery can assist with back and foot issues.

Medications:

Many drugs have been used to treat DMD. Corticosteroids, such as prednisolone, may slow down the progression in children with DMD. The neurologist may prescribe steroids proven only to slow down the progression. Antisense oligonucleotides (ASO) are newer drugs approved for DMD.

Dos and Don’ts

Duchenne muscular dystrophy (DMD) is a rare hereditary disorder that causes muscle weakness in children. It commonly develops in young children between the ages of 2 and 5. It causes muscle atrophy, which worsens over time. Most DMD boys use a wheelchair by the time they reach adolescence. DMD has no cure; however, the dos and don'ts listed below can help manage the condition.

Do’s	Don’ts
Consume more calcium and get more vitamin D.	Stay away from genetic counseling if DMD runs in the family history.
Exercise recommended by your physiotherapist.	Avoid foods high in fluids and fiber
Take prescribed medicines on time	Avoid the medicines prescribed by the doctor.
Include a lot of vegetables and fruits in the diet	Eat oily and foods containing saturated fats.
Maintain ideal body weight	Stay sedentary with no physical activity.

Precautions, and self-care will help you fight this condition positively and improve your quality of life.