Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods?

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.

Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.

Background: GNE Myopathy is a unique recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, caused by mutations in the GNE gene which is a key enzyme in the biosynthesis of sialic acid. To date, the precise pathophysiology of the disease is not well understood and no reliable animal model is available. Gne KO is embryonically lethal in mice.

Rare Median Nerve and Digital Nerve Tumor Resection and Distal Nerve Transfers: A Report of 2 Cases.

Cases: We present 2 cases of median nerve reconstruction using distal nerve transfers after resection of unusual benign median nerve tumors. Critical sensation was restored in case 1 by transferring the fourth common digital nerve to first web digital nerves. Thumb opposition was regained by transferring the abductor digiti minimi ulnar motor nerve branch to the recurrent median motor nerve branch.

Complement-membrane regulatory proteins are absent from the nodes of Ranvier in the peripheral nervous system.

Background: Homozygous CD59-deficient patients manifest with recurrent peripheral neuropathy resembling Guillain-Barré syndrome (GBS), hemolytic anemia and recurrent strokes. Variable mutations in CD59 leading to loss of function have been described and, overall, 17/18 of patients with any mutation presented with recurrent GBS. Here we determine the localization and possible role of membrane-bound complement regulators, including CD59, in the peripheral nervous systems (PNS) of mice and humans.