The severity of symptoms and the time at which they first present can vary greatly in GM1 gangliosidosis. [childrenshospital.org]

Age The infantile form (type 1) of GM1 gangliosidosis typically presents from birth to age 6 months, the juvenile form (type 2) typically presents in children aged 1-3 years, and the adult form (type 3) typically presents during childhood or adolescence [emedicine.medscape.com]

This enzyme is present in lysosomes, compartments within cells that function as the body’s recycling centers. The beta-galactosidase enzyme is responsible for breaking down a substance called GM1-ganglioside. [lysogene.com]

Only the infantile form has the typical cherry red spot in the macula but is present in only about 50% of infants. [disorders.eyes.arizona.edu]

CBC count Vacuolation of lymphocytes may be present in patients with G M1 gangliosidosis but is a nonspecific. [omicsonline.org]

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]

The first clinical trial of a gene therapy treatment based on discoveries made by UMass Medical School and Auburn University researchers has been administered in a child at the National Institutes of Health. The treatment took place in May. [umassmed.edu]

Treatment Treatment Options: There is no treatment that effectively alters the disease course. References [disorders.eyes.arizona.edu]

“GM1 gangliosidosis is a devastating disease in young children, for which there are no currently approved treatment options. [globenewswire.com]

“This designation represents an important recognition of the dire need for an effective treatment option for the children and their families impacted by GM1. [biospace.com]

Prognosis Prognosis is very poor with life-expectancy rarely exceeding 2 years. Causes of death include pneumonia due to recurrent aspiration and cardiopulmonary failure. [orpha.net]

Prognosis Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease often die by age 4 from recurring infection. [brainfacts.org]

Prognosis Infantile (type 1): Death usually occurs during the second year of life because of infection and cardiopulmonary failure. [1] Juvenile (type 2): Death usually occurs before the second decade of life. [1] Adult (type 3): Phenotypic variability [emedicine.medscape.com]

[…] but has not yet advanced to human trials.[4][7] Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.[4] Last updated: 8/6/2012 The long-term outlook (prognosis [rarediseases.info.nih.gov]

[…] 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]

Symptoms: Symptoms can appear within a few months after birth and include the inability to swallow or trouble feeding, loss of head control, missed developmental milestones, seizures, blindness and osteoporosis Epidemiology: The incidence of GM1 gangliosidosis [axovant.com]

[…] mitochondrial mass, morphology, and function. [12] Altered mitochondrial morphology could lead to a reduced availability of ATP at synapses, leading to some of the impaired neurotransmission and neuronal degradation seen in lysosomal storage disorders. [13, 12] Epidemiology [emedicine.medscape.com]

Journal Cell Mol Life Sci 65:351-3 (2008) DOI:10.1007/s00018-008-7470-2 Reference PMID:12019216 (GM2) Authors Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL Title Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by [genome.jp]

[…] 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]

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet. 2002;11(11):1343–1350 [PubMed] [Google Scholar] 50. Moriwaki S, Takashima S, Yoshida H, Kawano N, Goto M. [ncbi.nlm.nih.gov]

In this study, the ketogenic diet will be used to minimize or prevent gastrointestinal side-effects of miglustat. [clinicaltrials.gov]

The FDA’s Office of Orphan Products Development (OOPD) grants orphan designation status to drugs and biologics that are intended for the safe and effective treatment, diagnosis or prevention of rare diseases or conditions that affect fewer than 200,000 [biospace.com]

[…] treatment due to its success in other lysosomal storage disorders.[4] Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials.[4][7] Neurologic and orthopedic sequelae may prevent [rarediseases.info.nih.gov]

In addition to nutritional support, a feeding tube may be necessary to help prevent food, liquid or other foreign material from accidently going into the lungs (aspiration). [rarediseases.org]

Based on this, family was provided genetic counseling about the future recurrence risks of the disease and prevention by prenatal diagnosis. [bmcpediatr.biomedcentral.com]