Mr Sparkes, from Mencap, added: "Jordan's family battled tirelessly to ensure their 30-year-old son could access treatment.

WARNING: This story contains discussion of suicide. Marc Turner's mother remembers him coming home with a prescription in the ...

A 'devoted mother' has been diagnosed with motor neurone disease (MND) after her symptoms were initially mistaken for benign ...

Visual snow syndrome has now been included in the latest edition of the World Health Organisation's International Code of Diseases. Advocates say the recognition is a "huge relief" and hope it ...

Objectives Down syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities ...

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a chronic ... In one survey of 1418 ME/CFS patients (43), it was found that 98.5% (n=1397) of the ME/CFS participants struggled with ...

The patient's bone age was 12-13 years ... The 45,X karyotype confirmed the diagnosis. Diagnosis: Turner's syndrome. Management: Growth hormone therapy (1 IU/kg/week; ~0.05 mg/kg/day) was started ...

Doctors in Pune observed fast progression and increased cases of Guillain-Barre Syndrome (GBS). Some patients showed rapid recovery while others had high fatalities. Specialists reported cases ...

(A condition in which there is an absence of a sex chromosome in the egg or the sperm may result in conditions such as Turner syndrome, a "monosomy" which has the arrangement 45, XO.) Nondisjunction ...

The paper has not been peer-reviewed. Post-vaccination syndrome patients had lower levels of antibodies against the SARS-CoV-2 spike protein versus healthy controls, likely because they stopped ...

In December 2023, A group of five experts from Spain has developed consensus guidelines for the management of atypical hemolytic uremic syndrome (aHUS) in adults. These recommendations provide ...