Clinical findings in Brazilian patients with adult GM1 gangliosidosis
| Autor: | Mariluce Riegel, Roberto Giugliani, Charles Marques Lourenço, Ana Carolina Brusius-Facchin, Luciana Giugliani, Chong Ae Kim, Mara Lúcia Schmitz Ferreira Santos, Carlos Eduardo Steiner, Carolina Fischinger Moura de Souza, Guilherme Baldo |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Research Report
Pediatrics medicine.medical_specialty GM1 gangliosidosis lcsh:QH426-470 Endocrinology Diabetes and Metabolism Gross motor skill Neurological examination lcsh:Diseases of the endocrine glands. Clinical endocrinology Biochemistry Genetics and Molecular Biology (miscellaneous) Short stature Dysarthria Internal Medicine medicine INAGEMP late onset Dystonia lcsh:RC648-665 medicine.diagnostic_test business.industry beta‐galactosidase deficiency Parkinsonism Research Reports medicine.disease lcsh:Genetics sphingolipidosis Hypertonia medicine.symptom Hyperkinesia business Brazil |
| Zdroj: | JIMD Reports JIMD Reports, Vol 49, Iss 1, Pp 96-106 (2019) |
| ISSN: | 2192-8312 2192-8304 |
| Popis: | GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form. This retrospective cross‐sectional study focused on clinical findings in Brazilian patients with the adult form of GM1 gangliosidosis collected over 2 years. Ten subjects were included in the study. Eight were males and two females, with median age at diagnosis of 11.5 years (IQR, 4‐34 years). Short stature and weight below normal were seen in five out of the six patients with data available. Radiological findings revealed that the most frequent skeletal abnormalities were beaked vertebrae, followed by hip dysplasia, and platyspondyly. Neurological examination revealed that dystonia and swallowing problems were the most frequently reported. None of the patients presented hyperkinesia, truncal hypertonia, Parkinsonism, or spinal cord compression. Clinical evaluation revealed impairment in activities of cognitive/intellectual development and behavioral/psychiatric disorders in all nine subjects with data available. Language/speech impairment (dysarthria) was found in 8/9 patients, fine motor and gross motor impairments were reported in 7/9 and 5/9 patients, respectively. Impairment of cognition and daily life activities were seen in 7/9 individuals. Our findings failed to clearly identify typical early or late alterations presented in GM1 gangliosidosis patients, which confirms that it is a very heterogeneous condition with wide phenotypic variability. This should be taken into account in the evaluation of future therapies for this challenging condition. |
| Databáze: | OpenAIRE |
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