New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome [PDF]
BMC Ophthalmology, 2022 Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS.
Wan-Yu Cheng +5 more
doaj +2 more sources
Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy [PDF]
Orphanet Journal of Rare Diseases, 2022 Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu +5 more
doaj +2 more sources
Alström syndrome: the journey to diagnosis [PDF]
Orphanet Journal of Rare DiseasesBackground Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy ...
Akshat Sinha +4 more
doaj +2 more sources
A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh [PDF]
Clinical Case Reports, 2022 A 32‐year‐old male case with short stature presented to us with audio‐visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single‐gene genetic analysis revealed an ALMS1 gene mutation.
Mushfiq Newaz Ahmed +6 more
doaj +2 more sources
Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems [PDF]
Clinical Case Reports, 2023 Alstrom syndrome is a rare genetic disorder with an autosomal recessive mutation in the ALMS1 gene. The disease's manifestations include ophthalmic problems, hearing loss, obesity, and cardiovascular disorders.
Shabnam Jalilolghadr +5 more
doaj +2 more sources
Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features [PDF]
Orphanet Journal of Rare DiseasesBackground Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan ...
Yiguo Huang +8 more
doaj +2 more sources
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
core +1 more source
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