Alström syndrome: clinical signs and treatment. [PDF]
, 2022 Este es un síndrome monogénico causado por mutaciones en el gen ALMS1, caracterizado por un daño multiorgánico progresivo que puede conducir a la muerte prematura. El objetivo general de esta investigación es poder indagar los distintos aspectos clínicos
Espinoza Macías, Nohely Gabriela +2 more
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American Journal of Ophthalmology Case Reports, 2022 Purpose: The ophthalmologic findings in Alström syndrome include cone-rod dystrophy, optic atrophy, optic disc drusen, and retinal telangiectasias with exudative retinopathy.
Melinda Y. Chang +3 more
doaj +1 more source
A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy
The Thoracic & Cardiovascular Surgeon Reports, 2021 We report the case of a 3-month-old girl presenting with end-stage dilated cardiomyopathy and therapy-resistant cardiogenic shock. A left ventricular assist device (LVAD) Berlin Heart EXCOR was implanted, her organs recovered, and she was listed for ...
Meike Schwendt +3 more
doaj +1 more source
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source
alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.
PLoS ONE, 2021 Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
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Musculoskeletal deformities of Alström syndrome-a review of 55 cases. [PDF]
Orphanet J Rare DisIntroduction: Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium. Dual sensory defects, several metabolic and
Wanninayake S +5 more
europepmc +3 more sources
[Alström-syndrome: a missed diagnosis with consequences] [PDF]
, 2003 BACKGROUND: Alström-syndrome (OMIM: 203 800) is a rare disease with autosomal recessive inheritance. Characteristic features are retinal degeneration, truncal obesity, diabetes mellitus and sensorineural hearing loss.
Baumeister, FA;Sadowski, B;Schmitz, T;Grübl, A
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Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy [PDF]
Disease Models & MechanismsEleanor J. McKay +7 more
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Successful Heart Transplant in Dilated Cardiomyopathy Associated With Alström Syndrome: A Case Report [PDF]
, 2022 Alström syndrome is a rare, multisystemic genetic disorder, and dilated cardiomyopathy occurs in approximately two-thirds of patients with this condition.
신유림, 오재원, 정조원
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Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy. [PDF]
Yonago Acta MedAlström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2
Hanaki K +5 more
europepmc +5 more sources