Blog Archives
Gastrointestinal motility disorders may accompany dermatomyositis
Publishing a study on a case, a team of Texan internists recalls the possibility of various digestive motor disorders in dermatomyositis: proximal dysphagia (pharynx and upper third of the esophagus), relatively common in inflammatory myopathies (25 to 50% of cases), linked to damage to the striated muscles; distal dysphagia due to damage to smooth muscles, … [Read more]
No beneficial effect of resveratrol in fatty acid oxidation disorders
Resveratrol has been studied in a randomized, placebo-controlled, cross-over clinical trial. Organized jointly by French, Danish and Dutch, the study aimed to measure possible positive effects in several fatty acid oxidation disorders, some of which have muscle expression (carnitine palmitoyltransferase type II or CPTII deficiency): eight patients participated in the study, which took place over … [Read more]
Positive anti-FHL1 antibodies in certain inflammatory myopathies
Australian and Swedish researchers have studied the immunological profile of patients with normal inflammatory myopathies (274) or scleroderma (174) and compared them with those of 100 control participants. The presence of autoantibodies directed against FHL1, a protein with four and a half LIM domains, already implicated in an X-linked hereditary myopathy, was more specifically sought. … [Read more]
A compilation of data on primary carnitine deficiencies
A review of the literature carried out by Dutch authors sheds light on the symptoms and signs, often disparate, associated with this metabolic disease discovered in 1973 and which, in certain countries, is the subject of screening. newborn: 757 patient observations were retained from 166 published articles; 20% had only a biochemical diagnosis which may … [Read more]
Update on hematological abnormalities in neuromuscular genetic pathologies
American researchers examined the presence and type of blood abnormalities existing in certain hereditary myopathies. These abnormalities may be of interest for the positive diagnosis, used as biomarkers, but also for the differential diagnosis. Anaemias, abnormalities of all kinds of white blood cells and thrombocytopenias are most often encountered. Many mitochondrial pathologies with muscular expression … [Read more]
Glucocorticoids more helpful for breathing than for the heart past loss of walking ability in DMD
American clinicians have been trying to find out if long-term corticosteroid therapy in DMD could be of any use in the non-ambulatory stage of the disease. Using data from 398 patients with DMD recruited through the MD STARnet network, they observed that: deterioration in left ventricular function was unaffected; respiratory function seemed to improve, with … [Read more]
France revives positive European Momentum against Rare Diseases
It is a positive commitment, but France must set an example by perpetuating and amplifying a truly ambitious national policy. February 28 marked the 15th International Rare Diseases Day. On this occasion, thousands of initiatives – national, European and international – took place in more than 100 countries to bring visibility to the immense needs … [Read more]
Variety of practices in the cardiac management of patients with DMD
American cardio-paediatricians gathered within the ACTION network (Advanced Cardiac Therapies Improving Outcomes Network) were questioned about their management practices concerning DMD: 31 specialists from 23 separate institutions agreed to participate in the survey; while access to cardiac MRI and Holter monitoring is uniformly possible across the United States, their frequency and indications vary significantly from … [Read more]
High-throughput genomic sequencing (NGS) proves reliable for detecting deletions of the SMN1 gene
Chinese researchers associated with the Beijing Genomics Institute (BGI) compared three molecular biology techniques to detect the number of copies of the SMN1 gene in order to confirm the genetic diagnosis of spinal muscular atrophy (SMA): 478 DNA samples were studied simultaneously in quantitative PCR (qPCR), NGS and MLPA, the latter technique serving as a … [Read more]
An online survey of genetic information in relatives
As part of the IGP rare project, which emanates from a collective bringing together health professionals, researchers and patient associations, an online survey was launched in February 2022 to collect the experience of people with a genetic disease and who had to inform their family members of the risk of transmission. The questionnaire (in french) … [Read more]
