Background: Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the hallmark of the disease and the key to diagnosis.
Methods: We report a case of an elderly patient with subacute onset of severe weakness affecting the upper and lower limbs, neck extensors and abdominal muscles. A comprehensive laboratory workup was performed.
Background: The recreational use of nitrous oxide (N2O) has increased in recent years with a noticeable surge in the incidence of nitrous oxide-related myeloneuropathy.
Objectives: To raise awareness of increasing myeloneuropathy due to recreational nitrous oxide misuse in Israel.
Methods: We conducted a case series documenting the clinical and investigative features of eight patients presenting with nitrous oxide-induced myeloneuropathy who were admitted to our departments.
There are scarce reports of riboflavin-responsive lipid storage myopathy in elderly patients with onset in their sixties. We describe three elderly patients with riboflavin-responsive lipid-storage myopathy. All three patients (aged 67-71 years on first examination) had subacute onset of neck extensors and proximal limb weakness progressing to inability to rise from a sitting position or to walk.
View Article and Find Full Text PDFX-linked myopathy with excessive autophagy (XMEA) is a rare disorder characterized by slow progressive muscle weakness and distinctive pathology of excessive autophagic vacuoles on muscle biopsy. Here we report on five patients, in a single family, with proximal lower limb weakness. The proband, a 25-year-old man, presented with 5 years of progressive lower limbs proximal muscle weakness.
View Article and Find Full Text PDFTo determine whether there are differences in measures of cognitive function between second and third trimester pregnant women compared to non-pregnant controls. This prospective study comprised 40 pregnant and 40 non-pregnant women, 20-40 years old, native-Hebrew speakers who were recruited from the outpatient clinics during a period of nearly 2 years. The patients underwent cognitive and affective evaluation.
View Article and Find Full Text PDF