Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis. [ncbi.nlm.nih.gov]

• Wheelchair Bound

  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]

• Flatulence

  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]

• Skin Lesion

  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]

• Hyperpigmentation

  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]

• Suggestibility

  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]

• Withdrawn

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initial screen, another was omitted from analysis because of the large number of protocol violations, and a third was withdrawn very early as a result of adverse events which were not drug-related.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

• Incontinence

  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]

• Generalized Seizure

  *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

  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]

• Tremulousness

  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]

• Dysesthesia

  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]

Workup for her over several years included routine blood tests, alpha-fetoprotein, vitamin E, copper, and ceruloplasmin titers, which were negative. [movementdisorders.org]

Ensuing blood tests came back inconclusive and Armand’s parents, Tim Hayes and Lindy Sutton, were referred to Cincinnati Children’s Hospital Medical Center where a full workup was ordered including an MRI, muscle biopsy, chest x-rays and a DNA workup. [daytondailynews.com]

Workup and physical examination Both homozygotes and heterozygotes have a reduced concentration of sphingomyelin in their RBCs. Affected individuals have deficient Hex A activity and normal levels of the Hex B isozyme. [emedicine.medscape.com]

We report the results of a 3-year treatment with miglustat (100 mg t.i.d) in a patient with chronic Sandhoff disease manifesting with an atypical, spinal muscular atrophy phenotype. [ncbi.nlm.nih.gov]

This review outlines current knowledge pertaining the pathobiology as well as potential innovative treatments for the GM2 gangliosidoses. [eurekaselect.com]

Prognosis Prognosis depends on the type of GM1 gangliosidosis and is extremely poor in the severe infantile form and variable in the chronic adult form of the disease. [orpha.net]

Diagnosis and Prognosis: This is a serious, progressive disease that leads to early death in all but adult patients. No treatment is effective in altering the course of the condition. [disorders.eyes.arizona.edu]

[…] bilateral globus pallidi in a “wish bone” distribution, suggestive of mineralization Click here to view In our patient, childhood-onset progressive dystonia with prominent orofacial and laryngeal involvement and auditory startle suggested a secondary etiology [neurologyindia.com]

Etiology GM1 gangliosidosis is caused by mutations in the GLB1 gene (3p22.3) coding for beta-galactosidase. Diagnostic methods Diagnosis is based on clinical signs although classic signs are not always present at diagnosis. [orpha.net]

Summary Epidemiology Type 1 is the most frequent form of GM1 gangliosidosis but the exact prevalence is not known. About 200 cases have been reported to date. [orpha.net]

Layout table for study information Study Type : Observational Estimated Enrollment : 1000 participants Observational Model: Cohort Time Perspective: Prospective Official Title: Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL [clinicaltrials.gov]

Further Reading Tay-Sachs Disease Symptoms Tay-Sachs Disease Pathophysiology Tay-Sachs Disease Diagnosis Tay-Sachs Disease Prevention Tay-Sachs Disease Society and Culture Tay-Sachs Disease Research This article is licensed under the Creative Commons [news-medical.net]

Uyama E, Terasaki T, Owada M, Naito M, Araki S (1990) Three siblings with type 3 GM1-gangliosidosis: pathophysiology of dystonia and MRI findings (in Japanese). Clin Neurol 30:818–827 Google Scholar 18. [link.springer.com]

[…] history of ET and positive response to propranolol, [9] as well as cases of PWT and writers cramp in the same patient described in the literature. [7] The clinical features noted in our patient at least make a strong argument for dystonia being the pathophysiological [movementdisorders.org]

Adult (type 3): The adult subtype is marked by normal early neurologic development with no physical stigmata and subsequent development of a slowly progressive dementia with parkinsonian features, extrapyramidal disease, and dystonia. [3, 4, 5] Pathophysiology [emedicine.medscape.com]

Primary prevention is the most effective intervention since no effective therapy is currently available. [ncbi.nlm.nih.gov]

About LYS-GM101 LYS-GM101 is designed to replace the defective gene in the cells of GM1 patients, which will allow for the production of the functional enzyme and prevent the progressive nature of the neurological damage caused by GM1. [raredr.com]