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…
I thought it was normal to want to get married and start a family, but I learned very fast that society doesn’t see that for us rare disease patients.
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…
Pompe disease columnist Bruce Campbell discusses issues related to the long road from symptoms to diagnosis and the importance of nutritional practices.
COVID-19 disease course may be benign in some patients with late-onset Pompe disease (LOPD), according to a new case series published in Muscle & Nerve. The results showed that 4 patients with LOPD who had pre-existing pulmonary involvement had mild to moderate illnesses from COVID-19 did not require hospitalization. Respiratory Pompe symptoms remained stable in…
Current estimates suggest that about half of patients with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency may suffer from retinopathy.
Part 1 of 2: Neuromyelitis optica spectrum disorder (NMOSD) columnist Teaira Daniels sets the stage for how rare diseases turned her world upside down.
