Duchenne Muscular Dystrophy (DMD)

Features

Hagit Baris-Feldman

Israel Emerges as Global Powerhouse in Rare Disease Research

TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
Duchenne muscular dystrophy

Novel Myostatin Inhibitor Is a Potential Therapeutic Agent for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a severe, X-linked recessive dystrophinopathy caused by mutations to the DMD gene which results in abnormal dystrophin production.1,2 The mainstay of pharmacologic therapy in patients with DMD is corticosteroid treatment, which is associated with improved survival, cardiovascular and orthopedic outcomes, motor function, strength, and pulmonary function.3,4 DMD is a devastating…

Patient Perspectives


DMD Clinical Insights

PAH experimental therapies

Carrier Screening for Autosomal Recessive and X-Linked Conditions

Medicine as it is understood today is an umbrella term that covers the detection, diagnosis, management, and prevention of disease. It is, rightly so, akin to a broad kitchen in which there can never be too many cooks. As physicians debate how best to treat genetic rare diseases, (such as Duchenne muscular dystrophy, spinal muscular…
MD Symptoms

Toward the Development of a New QoL Measure for DMD Patients

When dealing with chronic illnesses, especially rare ones, it is important as healthcare providers to be aware of the mental and emotional toll they can have on the patient. As clinicians, we need to avoid the trap of becoming so focused on improving objective values that we neglect subjective ones. The World Health Organization (WHO)…

DMD Conference Coverage