The mean time for progression to becoming wheelchair-bound was 6.2 /- 5.5 years. The mean age of onset of speech problems was 7.0 /- 5.6 years, with a mean time of progression to anarthria of 5.6 /- 5.3 years. [ncbi.nlm.nih.gov]

Among infantile GM2g patients, the major drug-related adverse events (DRAEs) were abdominal discomfort and flatulence. In the juvenile group, however, the major DRAEs observed were diarrhea and weight loss. [ncbi.nlm.nih.gov]

Abstract We describe an autopsy case of a 1-year-old male baby presenting with failure to gain milestones, floppiness, and reddish skin lesions since birth. Fundoscopic examination revealed bilateral cherry-red spots in the macula. [ncbi.nlm.nih.gov]

Abstract Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue-grey hyperpigmentation commonly observed in the lumbosacral region of infants. [ncbi.nlm.nih.gov]

The proton magnetic resonance spectroscopy, previously reported in a single patient with GM1 gangliosidosis, detected a mild reduction of N-acetylaspartate, consistent with relative paucity of axons and neurons and increased levels of myoinositol suggestive [ncbi.nlm.nih.gov]

One subject failed the initial screen, another was omitted from analysis because of the large number of protocol violations, and a third was withdrawn very early as a result of adverse events which were not drug-related. [ncbi.nlm.nih.gov]

Muscle wasting (10.6 /- 7.4 years), proximal weakness (11.1 /- 7.7 years), and incontinence of sphincters (14.6 /- 9.7 years) appeared later in the course of the disease. [ncbi.nlm.nih.gov]

*Tonic- Clonic Seizure - generalized seizure that affects the entire brain. *Dementia – a loss of brain function that affects memory, thinking, language, judgment and behavior. [gm1gangliosidosis.blogspot.com]

At 8 years, he had a generalized seizure. Findings of the physical examination were normal with no dysmorphic features or hepatosplenomegaly. [ajnr.org]

Speech deterioration progressed more rapidly than gait abnormalities in both the Tay-Sachs variant and Sandhoff variant groups. Among patients with the Tay-Sachs variant, the HEXA genotype showed a significant correlation with the clinical course. [ncbi.nlm.nih.gov]

The bears presented at ages 10-14 months in poor clinical condition, lethargic, tremulous and ataxic. They continued to decline and were humanely euthanized. The T(2)-weighted MR images of the brain of one bear disclosed white matter hyperintensity. [ncbi.nlm.nih.gov]

A dramatic response of the severe dysesthesias to amitriptyline and gabapentin is described. Symptomatic sensory neuropathy may be a component of late-onset GM2 gangliosidosis. [ncbi.nlm.nih.gov]