Tag: rare disorders

  • Bulbospinal Muscular Atrophy, X-linked

    Bulbospinal Muscular Atrophy, X-linked Definition and Description of Bulbospinal Muscular Atrophy, X-linked Bulbospinal Muscular Atrophy, X-linked (BSMA) is a genetic disorder characterized by the degeneration of motor neurons in the brainstem and spinal cord, leading to muscle weakness and atrophy. This condition is caused by mutations in the gene coding for the androgen receptor (AR)…

  • ARG Deficiency

    ARG Deficiency Definition and Description of ARG Deficiency ARG Deficiency, or argininosuccinic aciduria, is a genetic metabolic disorder characterized by the body’s inability to properly metabolize the amino acid arginine. This deficiency is typically caused by mutations in the ASL gene, which is responsible for encoding the enzyme argininosuccinate lyase. The lack of this enzyme…