GM1 gangliosidosis

GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.

Clumsiness

Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.


Total: 1

                       


(per page)
PMID (PMCID)
7643138
 FEMALE Child
Type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl.
Tanaka R, Momoi T, Yoshida A, Okumura M, Yamakura S, Takasaki Y, Kiyomasu T, Yamanaka C.
J Neurol. 1995;242(5):299-303.
Clumsiness since early infancy and dystonia since early childhood which progressed slowly without mental deterioration and dysmorphism led us to the diagnosis of type 3 GM1 gangliosidosis.