title: Diabetes in the young - a case of Alström syndrome with myopathy.
abstract: Alström syndrome is a rare ciliopathy affecting about 1 in 1,000,000 individuals. It is characterised by cone-rod dystrophy, insulin resistance, diabetes mellitus, cardiomyopathy, renal failure and hypogonadism. Progressive multi-organ dysfunction eventually leads to death. Only about 800 patients with this disorder have been identified so far. The diagnosis of Alström syndrome is critical as it can easily be overlooked because of the many features it shares with metabolic syndrome. The gene affected in this autosomal recessive disease is ALMS1, the protein product of which is involved in intracellular trafficking and ciliary function. Alström syndrome is being studied as a model which would potentially shed light on the pathophysiology of diabetes mellitus. In this report, we describe a patient with features of Alström syndrome and a clinical picture suggestive of a recurrent, severe, steroid responsive myopathy which, to the best of our knowledge, has not been reported so far.
authors: SC Bronson, Institute of Diabetology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai 600003, Tamil Nadu, India. Email dr.s.charlesb@gmail.com.
authors: S C
authors: SC
authors: Bronson
authors: C R
authors: CR
authors: Anand Moses
authors: I
authors: I
authors: Periyandavar
authors: P
authors: P
authors: Dharmarajan
authors: E
authors: E
authors: Suresh
authors: A
authors: A
authors: Shanmugam
authors: R
authors: R
authors: Vasuki
authors: D
authors: D
authors: Venkatesh
authors: J
authors: J
authors: Amudha
mesh_terms: D000293:Adolescent; D056769:Alstrom Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D018797:Cell Cycle Proteins; D003920:Diabetes Mellitus / Q000209:etiology; D006177:Gynecomastia / Q000209:etiology; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000209:etiology*; D009154:Mutation; D011506:Proteins / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000209:etiology
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins
keywords: ALMS1; Alströöm; cone-rod dystrophy; diabetes; myopathy