The natural course and complications of alpha-mannosidosis—a retrospective and descriptive study

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...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2014, Vol.37 (1), p.79-82
Main Authors: Malm, Dag, Riise Stensland, Hilde Monica Frostad, Edvardsen, Øyvind, Nilssen, Øivind
Format: Article
Language:English
Subjects:
Adolescent
Adult
alpha-Mannosidosis - diagnosis
alpha-Mannosidosis - physiopathology
Biochemistry
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Child
Child, Preschool
Data Collection
Disease Progression
Errors of metabolism
Facies
Hearing Loss - complications
Human Genetics
Humans
Infant
Infant, Newborn
Internal Medicine
Medical genetics
Medical sciences
Medicine
Medicine & Public Health
Mental Disorders - complications
Metabolic Diseases
Middle Aged
Muscular Diseases - complications
Original Article
Pediatrics
Prognosis
Psychotic Disorders - complications
Retrospective Studies
Surveys and Questionnaires
Time Factors
Treatment Outcome
Young Adult
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Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-013-9622-2