'NHS doctors brushed off our condition as menopause – what we suffer from is far worse'...
Abstract We report the case of a 7-year-old boy who presented with post-viral myositis, rhabdomyolysis, and hepatitis, who was later readmitted...
Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-galactosidase A (GLA) enzyme which induces Gb3 deposition...
Title : Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome Link :...
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of...
Abstract Objective: This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family. Methods: Four...
Abstract Objective Hypophosphatasia (HPP) is a rare disease characterized by incomplete or defective bone mineralization due to a mutation in the...
Abstract Symptoms of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) are common in rheumatic diseases, but no studies report the...
I randomly came across an article on McArdle disease (a genetic disorder that mainly affects skeletal muscles), and found the description of...
Multiple System Atrophy: -slowness of movement, tremor, or stiffness -clumsiness or lack of coordination -impaired speech -croaky quivering voice...
Neuromyelitis optica (NMO) is a central nervous system disorder that causes inflammation in nerves of the eye and the spinal cord. NMO is also...
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from...
An EAPCI Expert Consensus Document on Ischaemia with Non-Obstructive Coronary Arteries in Collaboration with European Society of Cardiology...
Abstract Paroxysmal exercise-induced movement disorders may be caused by energy metabolism disorders, such as Glut 1 deficiency, pyruvate...
There is/are no substantive data on the frequency at which ME/CFS is a misdiagnosis – that is where a patient with a serious illness is...
I’m posting this new thread as I have been going through the process of diagnosis. My father was diagnosed last year (he’s now in his 80s) as a...
Abstract A 42-year-old man who had suffered from severe fatigue for 5 years was diagnosed as having chronic fatigue syndrome (CFS) and...
Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum of clinical phenomena commonly presenting during childhood and...
Donna Brown, Camille Birch, Jarred Younger, Elizabeth Worthey UAB Medicine Link to the abstract Myalgic encephalomyelitis/chronic fatigue...
Glutaric acidemia type 2 (GA2), also called multiple acyl‐CoA dehydrogenase deficiency, is an autosomal recessive disorder of fatty acid, amino...
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