Gastrointestinal trouble, muscle weakness and neurological problems mark the MNGIE type of this syndrome, which has been linked to the FBXL4 and C20orf72 genes.
Weakness, numbness and pain in the hand follow damage to the median nerve; nerve conduction studies and PMP22 testing can confirm the cause and inform relatives.
Discover the role of genetic testing in diagnosing Multiple Congenital Anomalies (MCA), its impact on treatment plans, and the benefits for family planning.
Research summarized here covers ATP2B1-AS1 silencing, ivabradine-driven microvesicles, exosomes carrying miR-322 and regulatory T cells that protect heart tissue.
Middle ear inflammation and fluid bring pain, fever and hearing loss; studies of Nischarin, A2ML1 and blaOXA50 show how genetics may shape risk and treatment.
Hearing loss from inner ear or auditory nerve damage accompanies these tumors, and sequencing studies have named deafness genes such as CLRN2 and TECTA.
Mutations in SCN4A, which encodes the Nav1.4 sodium channel, cause paramyotonia congenita: muscle stiffness and weakness that worsen with exercise and cold.
Excess adrenaline and noradrenaline from a usually benign adrenal tumor drive its symptoms; germline SLC25A11 findings and VHL variants guide screening of relatives.