Self-reported scores on the Numeric Rating Scale (NRS) from patients with neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) were correlated with physicians’ scores on the Modified Ashworth Scale (MAS) (r =.934; P <.001), as published in Multiple Sclerosis and Related Disorders. “Patients’ self-reported NRS score had a good correlation with clinician-evaluated MAS score…
The presence of anti-Sjögren’s syndrome A/Ro (anti-SSA/Ro) antibodies may be associated with disease activity and more severe disability in patients with neuromyelitis optica spectrum disorder (NMOSD), according to results of a study published in Multiple Sclerosis and Related Disorders. The researchers showed that patients with anti-SSA/Ro antibodies were more likely to be positive (89.2% vs…
Growing old with multiple sclerosis (MS) comes with its own complications. A disease on top of the normal aging process adds another layer of difficulty.
Researchers investigated the long-term effects of enzyme replacement therapy (ERT) in elderly patients with late-onset Pompe disease (LOPD) and concluded that it led to highly variable but satisfactory outcomes in motor and respiratory function, as published in Neuromuscular Disorders. Patients with LOPD have been treated with ERT such as recombinant human acid alpha-glucosidase (rhGAA), otherwise…
Psychosocial factors, including higher anxiety levels and behavioral problems, significantly contributed to poorer quality of life (QoL) in children with inborn errors of metabolism such as long chain fatty acid oxidation disorder (LCFAOD). Diseases involving emergency restricted diets, higher parental anxiety, and diagnoses at younger ages also decreased QoL scores in these children, as published…
Qatomah and colleagues presented a case study of a male patient with severe reversible acute rhabdomyolysis with concurrent hepatitis C infection and very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency, which is a type of long chain fatty acid oxidation disorder (LCFAOD), as published in the Journal of Medical Case Reports. Rhabdomyolysis is an adverse…
A fifth of patients with late-onset Pompe disease identified through newborn screening developed symptoms after 15 years, according to a new study published in the Journal of Pediatrics. “[Newborn screening] was found to facilitate the early detection and early treatment of those subjects,” the researchers said. The study also found that although GAA variants c.[752C>T;761C>T]…
Data from the Swedish newborn screening (NBS) program suggested that patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency who were diagnosed through the program had less severe phenotypes than those clinically diagnosed. VLCAD deficiency is a type of long chain fatty acid oxidation disorder (LCFAOD). “There is a clear difference between the clinically diagnosed patients…
My sister, Jamesha, like me, was diagnosed with limb-girdle muscular dystrophy (LGMD) and was dependent on a BiPap machine and wheelchair.
Recent studies show that immunoglobulin G3 (IgG3) heavy chain polymorphisms strongly associate with susceptibility to developing multiple sclerosis (MS). A study conducted by Kennedy et al, published in the Journal of Neuroimmune Pharmacology, concurs, reporting that higher levels of total immunoglobulin (IgG) and IgG3 occur in MS patients but not in patients with other neurological…
