Michael Benatar

Prevalence of Pompe: More Common Than You Know

Pompe disease, also known as acid maltase deficiency, is a rare, autosomal-recessive disorder in which a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) leads to impaired metabolism and breakdown of glycogen. Whereas infantile Pompe disease is typically multisystemic, the adult-onset disease form typically is dominated by skeletal muscle weakness affecting proximal limb - girdle musculature and respiration muscles. The rarity of the disease means that a high index …

A Treatable Autoimmune Myopathy Without Inflammation

When considering the treatable autoimmune myopathies, we usually think of the inflammatory myopathies, best characterized by polymyositis and

Blood Biomarkers for Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a uniformly fatal neurodegenerative disease for which we currently lack any real effective therapy. The absence of suitable biomarkers is perceived as a significant roadblock to therapy development. As neuron-specific structural components of motor axons, neurofilaments are potential markers of neurodegeneration, particularly phosphorylated neurofilament heavy chain and neurofilament light (NfL) chain in blood and cerebrospinal …

Serum Creatinine and Albumin Correlate with Survival in ALS

The development of effective treatments for patients with amyotrophic lateral sclerosis (ALS) has proven to be immensely challenging. Among the many

The Frustration of ALS Therapy Development

In the search for potential treatments for amyotrophic lateral sclerosis (ALS), researchers previously identified ceftriaxone, a beta-lactam antibiotic

Gene-Based Approach to Treating ALS

The biology of amyotrophic lateral sclerosis (ALS) is increasingly recognized to be heterogeneous, with an important contribution from genetic

FDA Alert: Fluoroquinolones Increase Risk for Peripheral Neuropathy

The U.S. FDA is requiring that the labels of fluoroquinolone antibiotics warn that the drugs increase the risk for peripheral neuropathy. The risk has

Antigenic Target of Autoantibodies Identified in Inclusion Body Myositis

Sporadic inclusion body myositis (sIBM) is the most common acquired muscle disease in people older than 50, with an estimated prevalence of 0.5 to 1

Ultrasound vs. MRI for Detecting Focal Peripheral Nerve Pathology

Focal peripheral nerve pathology typically is suspected based on a careful clinical assessment and the results of nerve conduction studies and

Genetic Basis of FSHD2 Discovered

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy, with a prevalence of about 1:15,000 to 1:20,000