GM1 gangliosidosis: clinical features
Evidence-based neurology checklist on gm1 gangliosidosis: clinical features: Developmental features Normal early development Short stature Dysmorphic appearance Skeletal dysplasia Developmental arrest Psychomotor retardation Exaggerated startle Hypotonia Dyspnoea Nystagmus Ophthalmic features…
Developmental features
- Normal early development
- Short stature
- Dysmorphic appearance
- Skeletal dysplasia
- Developmental arrest
- Psychomotor retardation
- Exaggerated startle
- Hypotonia
- Dyspnoea
- Nystagmus
Ophthalmic features
Dystonic features
Other neurological features
Systemic features
References
- Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
- Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta 2006; 1758:2057-2079.
- Muthane U, Chickabasaviah Y, Kaneski C, et al. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Mov Disord 2004; 19:1334-1341.
- Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. Gene 2013; 512:113-516.
- Uyama E, Terasaki T, Watanabe S, et al. Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Acta Neurol Scand 1992; 86:609-615.
- And 6 more. Subscribe to see the full list
