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GM2 Gangliosidosis
Gangliosidosis

Presentation

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]

Eyes

  • 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]

Neurologic

  • 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

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]

Treatment

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 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]

Etiology

[…] 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]

Epidemiology

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]

Pathophysiology

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]

Prevention

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]

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