In GM1-gangliosidosis, ceramide tetrahexoside is the major ceramide hexoside, while ceramide trihexoside is present only in small amount. [ncbi.nlm.nih.gov]

Age The infantile form (type 1) of G M1 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.com]

Presents as an extrapyramidal disorder with dystonia, dysarthria, and ... [accessanesthesiology.mhmedical.com]

• Inflammation

  Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain. 2003 Apr. 126 (Pt 4):974-87. [Medline]. Karimzadeh P, Naderi S, Modarresi F, Dastsooz H, Nemati H, Farokhashtiani T, et al. [emedicine.com]

  […] abnormality 0410263 Coarse facial features Coarse facial appearance 0000280 Coarse metaphyseal trabecularization 0100670 Decreased beta-galactosidase activity 0008166 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Encephalitis Brain inflammation [rarediseases.info.nih.gov]

• Ecchymosis

  Imad Dweikat Metabolic Unit, Pediatric Department, Makassed Hospital, Jerusalem Israel Source of Support: None, Conflict of Interest: None DOI: 10.4103/0019-5154.77567 Abstract A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis [e-ijd.org]

• Death in Infancy

  […] in infancy Infantile death Lethal in infancy [ more ] 0001522 Decreased beta-galactosidase activity 0008166 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frontal [rarediseases.info.nih.gov]

• Large Ears

  ears 0000400 Narrow mouth Small mouth 0000160 Optic atrophy 0000648 Oral aversion 0012523 Patent ductus arteriosus 0001643 Platyspondyly Flattened vertebrae 0000926 Premature birth Premature delivery of affected infants Preterm delivery [ more ] 0001622 [rarediseases.info.nih.gov]

• Depressed Nasal Bridge

  Depressed nasal bridge and prominent philtrum. Macroglossia and enlarged alveolar process. Wide ribs. Hypoplastic ilia and pelvic trabeculation. Short and stubby hands with bullet-shaped phalanges. [accessanesthesiology.mhmedical.com]

  Infants have coarse thick hair, a depressed nasal bridge, gingival hypertrophy, large low-set ears and hair on the forehead. [themedicalbiochemistrypage.org]

  nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dysostosis multiplex 0000943 Dysphagia Poor swallowing Swallowing difficulties Swallowing [rarediseases.info.nih.gov]

• Mandibular Prognathism

  Coarse facies with macrocephaly, frontal bossing, full cheeks, and mandibular prognathism. Puffy eyelids, cherry-red macular spots in 50% of patients and occasional corneal opacity. Depressed nasal bridge and prominent philtrum. [accessanesthesiology.mhmedical.com]

• Neonate-Onset

  GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol 2011;56:98-100 How to cite this URL: Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. [e-ijd.org]

  Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol. 2011 Jan. 56(1):98-100. [Medline]. [Full Text]. Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K. [emedicine.com]

• Speech Disorder

  disorder Speech impairment Speech impediment [ more ] 0002167 Short stature Decreased body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Strabismus Cross-eyed Squint [rarediseases.info.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]

Management and treatment Treatment for patients with GM1 gangliosidosis is symptomatic and supportive. Prognosis Prognosis is very poor with life-expectancy rarely exceeding 2 years. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

This SBIR is designed to lead to an effective ERT-based treatment for GM1 Gangliosidosis patients, a patient population with desperate need for new therapeutic options. [grantome.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]

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]

With normal milestones behind them, her parents were completely unprepared when they first heard about juvenile GM1 gangliosidosis, and its bleak prognosis for the future. Desperate for information, they reached out to social media. [patientworthy.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.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]

[…] 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.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.com]

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]

[…] continuing to advance this product candidate in our upcoming phase I/II clinical trial (LYS-GM101). ” LYS-GM101 has the potential to replace the defective gene in the cells of GM1 patients, which will allow for the production of the functional enzyme and prevent [businesswire.com]

It is recommended to all Jewish married couples of the East European origin to carry out the test for identification of a carriage that will give the chance of prevention of a disease. [infomeds.net]

[…] 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]