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sinal muscular atrophy

Understanding Spinal Muscular Atrophy: Recent Clinical Insights

There have been several recent publications related to spinal muscular atrophy (SMA). Below is a summary of some pieces that add to our understanding of the disease. Identifying Modifiers of SMN Proteins A study out of Bethesda, Maryland, published in Cell Reports, aimed at investigating the mechanisms by which survival motor neuron (SMN) proteins are…

PAH Six-Minute Walk Test

Could a Mobile App Boost the Utility of the Six-Minute Walk Test in PAH?

Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by vascular proliferation and remodeling of the small pulmonary arteries that ultimately causes right heart failure and premature death. The predominant symptom of PAH is dyspnea on exertion, with a decrease in exercise capacity.1 A variety of methods are available for the objective assessment of…

woman prepares an IV Drip

Late-Onset Pompe Disease in the Era of Enzyme Replacement Therapy

Pompe disease is a rare, multisystemic, autosomal recessive disease also known as glycogen storage disease type II. It is caused by the lack or deficiency of lysosomal acid-alpha-glucosidase (GAA), which leads to the accumulation of glycogen within lysosomes that manifests as a multisystem disorder. There was no specific treatment for Pompe disease until the first…

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…

pediatric ALGS

Where We Are in ALGS: A Pediatric Gastroenterologist’s Perspective

Although we are making headway in understanding and treating people living with Alagille Syndrome (ALGS) — a rare genetic disorder that manifests in a variety of ways — several questions remain. Here, Henry C. Lin, MD, pediatric gastroenterologist in the Division of Gastroenterology at Doernbecher Children’s Hospital, Oregon Health & Science University, shares his perspective…

Alpha-1 Antitrypsin Deficiency & COVID-19

Examining the Links Between SARS-CoV-2 and Alpha-1 Antitrypsin Deficiency

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can cause a variety of symptoms, and people with chronic lung disease including chronic obstructive pulmonary disease (COPD), chronic liver disease especially cirrhosis, diabetes, and cardiovascular disease are among those who are more prone to develop severe infection. We now know that severe SARS-CoV-2 infection is mainly…

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