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Da capo 3 r xrated guide3/7/2023 There are no national or international management guidelines/ standard operating procedures to guide how best to care for patients with ALMS. To date, there is no disease specific therapy for ALMS and the mainstay of management involves multidisciplinary and multiprofessional teams of experts as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve the longevity and quality of life of patients. This results in inadequate or inappropriate treatment, loss of confidence in the healthcare system, and patient disempowerment. The rarity of this disorder, the complexity of the syndrome and the scarcity of expertise can translate into misdiagnosis, delayed diagnosis, and barriers to adequate care. The disease is relentlessly progressive in nature which can result in premature death. Clinical features, time of onset and severity can vary greatly among and even within families bearing identical genetic alterations. This syndrome was first described by Carl-Henry Alström in 1959 as a progressive retinal degeneration, obesity, neuronal hearing loss and insulin resistance. These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients, b) family physicians and other primary caregivers and c) patients and their families.Īlström Syndrome (ALMS OMIM #203800) is an ultra-rare multisystem genetic disorder caused by pathogenic variants of ALMS1 gene. The Appraisal of Guidelines for Research & Evaluation (AGREE II) system was adopted for the development of the guidelines and for defining the related levels of evidence and strengths of recommendations. All information contained in this document has originated from a systematic review of the literature and the experiences of the authors in their care of patients with ALMS. These guidelines are intended to define standard of care for patients suspected or diagnosed with ALMS of any age. ![]() Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve patient quality of life. The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isolated populations have a higher-than-average frequency. Clinical symptoms first appear in infancy with great variability in age of onset and severity. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. ![]() Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13.
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