Consensus clinical management guidelines for Alström syndrome
نویسندگان
چکیده
منابع مشابه
Consensus clinical management guidelines for Friedreich ataxia
Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA include progressive afferent and cerebellar ataxia, dysarthria, impaired vibration sense and proprioception, absent tendon reflexes in lower limbs, pyramidal weakness, scoliosis, foot def...
متن کاملAlström Syndrome: Genetics and Clinical Overview
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-or...
متن کاملGuidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence.
STUDY DESIGN Modified Delphi technique. OBJECTIVE To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion. SUMMARY OF BACKGROUND DATA Rett syndrome is a rare disorder and clinical expertise is thus with small case series. Scoliosis is a frequent association and the evidence base dealing with scoliosis managem...
متن کاملAlström syndrome
RATIONALE Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS Alström syndrome. INTERVENTIONS Multidisciplinary team approach, with echocardiography, hearin...
متن کاملAlström syndrome: a paradigm for diffuse fibrosis and clinical progression
Background Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder characterised by progressive endocrine disarray, sensorineural deficit, cardiac, renal, and hepatic abnormalities. Idiopathic infantile dilated cardiomyopathy (CMP) is common, presenting acutely in 45% of individuals and recurs or develops de novo in 65% of adolescents with high rates of morbidity and mortality. M...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01468-8