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| Disease found: | Duchenne Muscular Dystrophy |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare muscle disorder and is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles [more info] |
| Signs and Symptoms: | Weakness and wasting of the muscles closest to the trunk, toe walking, falling, arrhythmias, cardiomyopathy [more info] |
| Diagnosis: | Molecular genetic tests involve the examination of DNA to identify disease-causing variants in the DMD gene and elevated CK levels [more info] |
| Treatment: | Corticosteriods [more info] |
| Clinical Management: | Specialist referrals and long term corticosteroid use [more info] |
| Referral: | MDA recommends various clinics . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various clinical studies currently recruiting |