Duchenne muscular dystrophy

A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the w

A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

Signs and symptoms

• Achilles tendon contracture
• Elevated circulating creatine kinase activity
• Difficulty climbing stairs
• Waddling gait
• Muscle weakness
• Obstructive sleep apnea
• Hamstring contractures
• Delayed gross motor development
• Restrictive ventilatory defect
• Knee flexion contracture

Medications that may treat it

casimersen deflazacort delandistrogene moxeparvovec eteplirsen givinostat golodirsen mazindol vamorolone viltolarsen

Also known as: Muscular dystrophy, Duchenne