title: The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.
abstract: Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on a very limited number of observations. In order to assess the disease presentation in detail and to study disease characteristics, a study was started in 1991 and has been ongoing for over 20 years. Patients with confirmed alpha-mannosidosis were recruited through The International Society for Mannosidosis and Related Diseases (ISMRD) where families affected with alpha-mannosidosis received a questionnaire on general clinical information to be filled out by the responsible physician. The questionnaire was returned by 125 patients (64%). Of these, 45 patients were 15 years old or older at the time of evaluation. The questionnaire allowed us to assess the following features: Facial dysmorphism, columnar disease, arthritis, myopathy, hearing impairment, mental impairment, psychosis, bone disease and motor function as well as general health. This study describes the progression of alpha-mannosidosis and may be helpful in determining the clinical characteristics for assessments of prognosis.
authors.affiliation: Tromsø Centre of Internal Medicine (TIS as), 9008, Tromsø, Norway, dag.malm@online.no.
authors.forename: Dag
authors.initials: D
authors.lastname: Malm
authors.forename: Hilde Monica Frostad
authors.initials: HM
authors.lastname: Riise Stensland
authors.forename: Øyvind
authors.initials: Ø
authors.lastname: Edvardsen
authors.forename: Øivind
authors.initials: Ø
authors.lastname: Nilssen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003625:Data Collection; D018450:Disease Progression; D019066:Facies; D034381:Hearing Loss / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D001523:Mental Disorders / Q000150:complications; D008875:Middle Aged; D009135:Muscular Diseases / Q000150:complications; D011379:Prognosis; D011618:Psychotic Disorders / Q000150:complications; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult; D008363:alpha-Mannosidosis / Q000175:diagnosis* / Q000503:physiopathology*