X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in plasma and tissues. It primarily affects the central nervous system white matter and the adrenal cortex. Clinical manifestations include myeloneuropathy, leukodystrophy, and adrenal insufficiency.
View Article and Find Full Text PDFMyasthenia gravis with positive MuSK antibody often involves the bulbar muscles and is usually refractory to acetylcholinesterase inhibitors. For MuSK-MG patients who experience acute exacerbations and do not respond to conventional treatments, there is an urgent need to find more suitable treatment options. With the advent of biologic agents, efgartigimod has shown promising results in the treatment of MG.
View Article and Find Full Text PDFHereditary neuropathy with liability to pressure palsy (HNPP) is characterized by acute, painless and recurrent mononeuropathies. Genetic testing shows PMP22 gene deletion of chromosome 17p11.2 can provide evidence for the diagnosis of HNPP.
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