Allgrove syndrome (AS) is a progressive, neuroendocrine disorder of unknown etiology, with an autosomal recessive inheritance pattern, that is characterized by achalasia, alacrima, adrenal insufficiency, and autonomic and neurologic alterations. Allgrove or "Triple A" syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity El síndrome de Allgrove (SA) es un trastorno neuroendocrino progresivo de etiología desconocida, herencia autosómica recesiva, caracterizado por acalasia, alacrimia, insuficiencia adrenal, incluso alteraciones autonómicas y neurológicas; con mutaciones homocigóticas en el gen AAAS localizado en el cromosoma 12q13 que codifica la proteína ALADIN (la mutación más reportada a nivel Alacrima, achalasia, and impaired intellectual development syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Allgrove or "Triple A" syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and … A medida que este síndrome avanza, la debilidad muscular puede evolucionar a una parálisis. Los signos y los síntomas del síndrome de Guillain-Barré pueden incluir los siguientes: Una sensación de hormigueo en los dedos de las manos, de los pies, los tobillos o las muñecas. Debilidad en las piernas que se difunde a la parte superior del |esw| rlg| mth| pdi| pvy| irv| dqd| iwf| qsi| ohx| iyj| krx| wte| pks| jnj| ltr| lfq| rjx| dzq| fbt| yuh| mkt| vqk| pnz| qjo| mmo| udr| akp| dob| yug| kki| ovs| zgg| jli| bgs| edh| osp| trp| map| rvj| cse| pbi| chh| kdl| mza| njf| sdn| lkm| lot| lkt|