What is Duchenne Muscular Dystrophy (DMD)?
Duchenne Muscular Dystrophy, known as DMD for short, is a rare genetic muscle disease. It usually manifests itself in childhood and is more common in boys. DMD is characterized by the weakening and loss of muscles, which negatively affects mobility. Symptoms of the disease include balance problems, muscle weakness, and difficulty walking. Although there is no definitive treatment for DMD, some methods aim to manage symptoms and improve quality of life.
Symptoms and Diagnosis of DMD
The symptoms of Duchenne Muscular Dystrophy usually appear between the ages of 3 and 5. These symptoms are often noticed late by parents. The main symptoms of DMD are:
- Muscle Weakness: Significant weakness is seen especially in the hip, thigh and shoulder areas.
- Slow Walking: Children begin to walk slower than normal and fall frequently.
- Balance Problems While Walking: Children have difficulty walking due to loss of balance.
- Slowly Developing Muscle Stiffness: Muscles feel stiff and short.
- Delayed Motor Development: Children may acquire motor skills later than their peers.
DMD is usually diagnosed through a physical examination, genetic testing, and muscle biopsy. Family history also plays an important role in diagnosis.
Treatment Methods for DMD
There is no cure for Duchenne Muscular Dystrophy. However, there are a number of treatments available to slow the progression of the disease and manage symptoms. These include:
- Physiotheraphy: Regular physical therapy sessions are recommended to increase muscle strength and flexibility.
- Medication: Corticosteroid medications can increase muscle strength and slow the progression of the disease.
- Supportive Therapy: Supportive treatments can be applied to maintain respiratory and cardiac health.
- Operation: If necessary, surgical intervention options for the musculoskeletal system can be considered.
Recent Developments and Research for DMD
In recent years, intensive research has been conducted on new treatments for Duchenne Muscular Dystrophy. Gene therapy stands out as a promising option for treating DMD. This therapy aims to strengthen muscles by inserting healthy genes into muscle cells affected by the disease. However, gene therapy is still in the experimental phase and has not been widely approved.
In addition, some drugs show positive results in clinical trials. These drugs aim to reduce muscle weakness and improve quality of life. However, these treatment options must be covered by the Social Security Institution and approved by the Ministry of Health.
Demands and Expectations of Families
Families of children with DMD expect more support from the health system. Families want treatment options developed abroad to be accessible in Turkey. In addition, they want pharmaceutical companies to apply for licenses in Turkey and for effective treatment methods to be provided with state guarantee.
Many families say that the high costs of DMD treatment are impossible to afford and are calling for more government support. They also want authorities to take action to learn more about the effectiveness of medications and to make reliable treatments available.
Living with DMD: Recommendations for Families and Society
Families living with Duchenne Muscular Dystrophy go through a difficult process, both physically and emotionally. It is very important for families to support each other during this process. Here are some suggestions that families can follow during this process:
- Getting Information: Learning more about DMD can help families cope with this disease.
- Support Groups: Communicating with other families and sharing experiences can be a source of morale and motivation.
- Physical Activity: Increasing children's physical activity will help them maintain their muscle strength.
- Expert Support: It is possible to make treatment processes more effective by working with experts in the field.
