Summary about Disease
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to alterations or absence of the protein dystrophin. It primarily affects males, with symptoms usually appearing in early childhood. DMD leads to significant disability and a shortened lifespan.
Symptoms
Frequent falls
Difficulty getting up from a lying or sitting position
Trouble running and jumping
Waddling gait
Walking on the toes
Large calf muscles
Muscle pain and stiffness
Learning disabilities (in some cases)
Delayed speech development
Fatigue
Progressive weakness affecting all muscles, including those used for breathing and heart function
Causes
DMD is caused by a mutation in the DMD gene, located on the X chromosome. This gene is responsible for producing dystrophin, a protein that strengthens and protects muscle fibers. The mutation prevents the body from producing functional dystrophin, leading to muscle damage and weakness. It is inherited in an X-linked recessive pattern.
Medicine Used
Corticosteroids (e.g., prednisone, deflazacort): Help to improve muscle strength and function, and delay the progression of DMD.
Eteplirsen, Golodirsen, Viltolarsen, Amondys 45: Antisense oligonucleotides that aim to skip certain exons during the dystrophin production process, potentially producing a truncated but functional dystrophin protein in individuals with specific genetic mutations.
Ataluren: For patients with a specific nonsense mutation, it helps the protein-making machinery to read through premature stop signals in the genetic code.
Creatine: May improve muscle strength in some individuals.
Heart Medications: Such as ACE inhibitors and beta-blockers, to manage heart complications.
Other Supportive Therapies: Including pain relievers, supplements (e.g., vitamin D), and medications to manage respiratory complications.
Is Communicable
No, Duchenne muscular dystrophy is NOT communicable. It is a genetic disorder, not an infectious disease.
Precautions
Since DMD is a genetic condition, there are no precautions to prevent acquiring it after birth. Precautions focus on managing the condition and preventing complications:
Regular Medical Checkups: To monitor disease progression and manage symptoms.
Physical Therapy: To maintain muscle strength, flexibility, and range of motion.
Respiratory Support: To manage breathing difficulties (e.g., cough assist devices, ventilators).
Cardiac Monitoring: To detect and treat heart problems.
Nutritional Support: To maintain a healthy weight and prevent malnutrition.
Genetic Counseling: For families planning to have children, to assess the risk of passing on the DMD gene.
How long does an outbreak last?
7. How Long Does An Outbreak Last? DMD is not an outbreak. Outbreaks apply to communicable diseases. DMD is a chronic, progressive genetic disorder that lasts a lifetime.
How is it diagnosed?
Clinical Examination: Evaluating muscle weakness and other symptoms.
Blood Tests: Measuring creatine kinase (CK) levels, which are often elevated in DMD.
Genetic Testing: To identify mutations in the DMD gene.
Muscle Biopsy: Examining muscle tissue under a microscope to assess dystrophin levels and muscle fiber damage.
Electromyography (EMG): To assess the electrical activity of muscles.
Echocardiogram and ECG: To assess heart function.
Timeline of Symptoms
Early Childhood (2-5 years): Delayed motor skills, frequent falls, difficulty getting up, waddling gait, enlarged calf muscles.
Later Childhood (6-12 years): Progressive muscle weakness, difficulty walking, use of Gower's maneuver (using hands to push up from the floor), increasing fatigue.
Adolescence (13+ years): Loss of ambulation (ability to walk), scoliosis, respiratory problems, heart problems.
Adulthood: Severe muscle weakness, dependence on mechanical ventilation, significant cardiac complications.
Important Considerations
Early Diagnosis: Is crucial for initiating treatment and management strategies to improve quality of life and prolong lifespan.
Multidisciplinary Care: Requires a team of specialists, including neurologists, cardiologists, pulmonologists, physical therapists, occupational therapists, and genetic counselors.
Emotional Support: DMD affects not only the individual but also their family, requiring emotional support and counseling.
Research: Ongoing research is focused on developing new therapies, including gene therapy, to treat and potentially cure DMD.
Ethical Considerations: Gene therapy and other cutting-edge treatments present ethical dilemmas regarding access, cost, and potential risks and benefits.