Action Myoclonus Renal Failure Syndrome (AMRF) is a rare genetic disorder characterized by a combination of two main features: action myoclonus (involuntary muscle jerks) and renal failure (progressive loss of kidney function). This syndrome is caused by mutations in the SCARB2 gene, which encodes for a protein involved in cellular processes such as the transport of certain molecules within cells.
The first sign of AMRF often appears in childhood or early adolescence. Individuals affected by this syndrome experience myoclonic jerks, which are sudden, brief, and shock-like muscle contractions that can occur spontaneously or in response to voluntary movements. The jerks typically affect the arms and legs, but can also involve the face, trunk, and neck. Over time, these myoclonic jerks may worsen and become more frequent, leading to significant impairment in daily activities.
In addition to the movement disorder, individuals with AMRF develop renal failure, which results in the kidneys being unable to effectively remove waste, toxins, and excess fluids from the body. This can lead to a variety of symptoms, including fatigue, dehydration, excessive thirst, weight loss, and changes in urine output. If left untreated, renal failure can progress and potentially result in end-stage renal disease, necessitating dialysis or kidney transplantation.
Due to its rarity, AMRF is often misdiagnosed or unrecognized. It is important for affected individuals to undergo a comprehensive evaluation, including genetic testing, to identify the underlying SCARB2 gene mutation and confirm the presence of AMRF. Although no cure currently exists for the syndrome, treatment mainly focuses on managing symptoms and addressing complications associated with renal failure. A multidisciplinary approach involving neurologists, nephrologists, and other specialists is
