differential diagnosis

Simon never linked the pain in his hands and feet to multivitamins – but a pathology test did A growing number of consumers are presenting with symptoms linked to high levels of vitamin B6, pathologists say, while the supplement industry goes unpoliced When Simon Bogemann’s hand began cramping...

I thought It would be interesting to have a place to collect descriptions or accounts of living with other illnesses that include phenomena seemingly nearly identical to what we call PEM. For Mitochondrial disease, check out the thread: What differentiates ME/CFS from known primary...

'NHS doctors brushed off our condition as menopause – what we suffer from is far worse' https://www.mirror.co.uk/news/health/nhs-doctors-brushed-condition-menopause-33179607?fbclid=IwZXh0bgNhZW0CMTEAAR2xm6RVY_jdTbG8pW9LwRqG0h5FZpl9niy3pcKJS30n-X3aLLqPtckf3u4_aem_vbdi1bwgIUS3D0L0ulVZuQ

Numerous people are being diagnosed as having CFS and fibro after apparent remission of sarcoidosis. Numerous questions arise 1) What does the diagnoser know about CFS or fibro? 2) What does the diagnoser know about work on post sarcoid fatigue vs sarcoid e.g. persistent shift to TH1 in post...

Abstract We report the case of a 7-year-old boy who presented with post-viral myositis, rhabdomyolysis, and hepatitis, who was later readmitted due to a seizure-like activity and ultimately found to have episodes of recalcitrant polymorphic ventricular tachycardia secondary to simultaneous QT...

Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction. Exercise intolerance and fatigue are frequent and early findings in FD patients, representing a self-standing clinical...

Title : Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome Link : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748504/ Abstract Introduction. Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can easily be mistaken...

Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of unexplained severe fatigue Abstract Background Causative genetic variants cannot yet be found for many disorders with a clear heritable component, including...

Abstract Objective: This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family. Methods: Four symptomatic and three asymptomatic individuals from two generations underwent clinical, neurophysiological, imaging, and muscle biopsy examinations...

Abstract Objective Hypophosphatasia (HPP) is a rare disease characterized by incomplete or defective bone mineralization due to a mutation in the alkaline phosphatase (ALP) gene causing low levels of ALP. Disease presentation is heterogeneous and can present as a chronic pain syndrome like...

Abstract Symptoms of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) are common in rheumatic diseases, but no studies report the frequency of these in early systemic sclerosis. There are no known biomarkers that can distinguish between patients with ME/CFS, although mitochondrial...

I randomly came across an article on McArdle disease (a genetic disorder that mainly affects skeletal muscles), and found the description of exertion intolerance both interesting and relatable. Does anyone here know if there has been any scientific attempts to compare the exertion intolerance...

Multiple System Atrophy: -slowness of movement, tremor, or stiffness -clumsiness or lack of coordination -impaired speech -croaky quivering voice -fainting or lightheadedness due to orthostatic hypotension Summary Background Functionally impaired variants of COQ2, encoding an enzyme in...

Neuromyelitis optica (NMO) is a central nervous system disorder that causes inflammation in nerves of the eye and the spinal cord. NMO is also called neuromyelitis optica spectrum disorder (NMOSD) and Devic disease. It occurs when the body's immune system reacts against its own cells. This...

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome Authors from the Neuromuscular Disorders Unit of the Hospital Universitario 12 de Octubre in Madrid (national...

An EAPCI Expert Consensus Document on Ischaemia with Non-Obstructive Coronary Arteries in Collaboration with European Society of Cardiology Working Group on Coronary Pathophysiology & Microcirculation Endorsed by Coronary Vasomotor Disorders International Study Group Vijay Kunadian, Alaide...

Abstract Paroxysmal exercise-induced movement disorders may be caused by energy metabolism disorders, such as Glut 1 deficiency, pyruvate dehydrogenase deficiency or mitochondrial respiratory chain disorders. A 4-year-old boy with a history of febrile seizures presented with paroxysmal...

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 misdiagnosed as having ME/CFS. Despite the lack of data a misdiagnosis of ME/CFS undoubtedly happens and while differential and exclusionary diagnoses should...

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 result of being part of the UK’s 100,000 genome project. He has had problems for many years, but these were initially either put down to ageing, brushed...

Abstract A 42-year-old man who had suffered from severe fatigue for 5 years was diagnosed as having chronic fatigue syndrome (CFS) and fibromyalgia. Endocrinological workup using combined anterior pituitary function tests showed that the patient had adrenocorticotropin hormone (ACTH)...