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Learn more. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form.
Ten subjects were included in the study. Eight were males and two females, with median age at diagnosis of 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. 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. This study presents additional data about clinical findings in the adult form of GM1 gangliosidosis, improving the understanding of type III GM1 gangliosidosis, as prospective studies of this adult form are lacking and difficult to perform. Gangliosidoses are autosomal recessive inherited metabolic diseases in which accumulation of gangliosides glycosphingolipids containing one or more sialic acid residues in the central nervous system CNS leads to severe and progressive neurological impairment.