The most common form of the disease typically presents in infancy, but various other forms can present in childhood, adolescence, or even adulthood. GM2 gangliosidosis is sometimes called Tay-Sachs disease or HexA deficiency. [childrenshospital.org]

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]

• Abnormal Eye Movement

  We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heterozygote (M1V/Y37N). [ncbi.nlm.nih.gov]

• Progressive Macrocephaly

  After age 8-10 months, deterioration is rapid as neurodegeneration progresses. Macrocephaly due to reactive cerebral gliosis typically begins at age 18 months. [emedicine.medscape.com]

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]

Management and treatment Treatment for patients with GM1 gangliosidosis is symptomatic and supportive. Substrate reduction therapy is a potential approach for clinical trials in late-onset forms. [orpha.net]

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 The disorder is caused by mutations in the GLB1 gene (3p22.3) coding for beta-galactosidase. To date, more than 165 mutations have been identified. [orpha.net]

Summary Epidemiology The disorder is panethnic but worldwide prevalence is not known. Prevalence at birth is estimated to be approximately 1:100,000 to 200,000 live births. [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]

[…] 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]

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]

Review GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies Andrés Felipe Leal et al. Int J Mol Sci. 2020. [pubmed.ncbi.nlm.nih.gov]

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

GM2 gangliosidosis is most often caused by a mutation in the HEXA or the GM2A gene, which prevents an enzyme called beta-hexosaminidase A from properly breaking down large molecules inside the body’s cells. [childrenshospital.org]