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Generalized Gangliosidosis Type II

GM1 Gangliosidosis


Presentation

  • Authors: Omkar Hajirnis and Anaita Udwadia-Hegde Article first published online:2 JUN 2015 DOI: 10.1002/mdc3.12197 Case Report This 27-year-old female presented with delay in motor milestones noted in infancy followed by slowly progressive motor disability[movementdisorders.org]
  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.de]
  • The sister (age 7 yrs.) and the brother (age 9 yrs.) both presented with developmental arrest, gait disturbance and dementia. Both were bedridden by 2 years of age and suffered progressive myoclonic epilepsy syndrome with hyperacusis.[cags.org.ae]
  • She presented with psychomotor delay from 2 years of age; flattened vertebral bodies with a hook-shaped deformity at the thoracolumbar junction were first detected at the age of 3.[ajnr.org]
  • 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.medscape.com]
Pallor
  • Affected infants will have corneal clouding and the presence of macular pallor (the cherry-red spot) in the eye typical of that seen in Tay-Sachs disease, another lysosomal storage disease.[themedicalbiochemistrypage.org]
Swelling
  • Mitochondria (m) and endoplasmic reticulum (er) demonstrate postmortem swelling.[docslide.com.br]
Asymptomatic
  • Father 55 Chr3: 33110442 ; T T/C (Het); c.266A A/G; p.H89R in exon 3 of GLB1 gene Present (heterozygous state) Asymptomatic Chr3: 33059962; C C/T (Het);c.1325G G/A; p.R442Q in exon 13 of GLB1 gene Absent Mother 55 Chr3: 33059962 ; C C/T (Het);c.1325G[movementdisorders.org]
Low Set Ears
Coxa Valga
  • […] symptomatic and supportive. 0000271 Abnormality of the liver Abnormal liver Liver abnormality [ more ] 0001392 Abnormality of the spleen 0001743 Ataxia 0001251 Autosomal recessive inheritance 0000007 Cerebral atrophy Degeneration of cerebrum 0002059 Coxa[rarediseases.info.nih.gov]
  • valga Very mild Yes No (right hip replacement April 2009) Mild bilateral hip dysplasia Odontoid hypoplasia No No No Yes and c2 c3 spondylolistesis Hepato-splenomegaly No No No No Cardiac involvement (left ventricular Mild aortic reflux Mild aortic reflux[slideshare.net]
Platyspondyly
  • 0001251 Autosomal recessive inheritance 0000007 Cerebral atrophy Degeneration of cerebrum 0002059 Coxa valga 0002673 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Generalized myoclonic seizures 0002123 Optic atrophy 0000648 Platyspondyly[rarediseases.info.nih.gov]
Hyperreflexia
  • Systemic Features: Infants with type I disease are usually hypotonic from birth but develop spasticity, psychomotor retardation, and hyperreflexia within 6 months. Early death from cardiopulmonary disease or infection is common.[disorders.eyes.arizona.edu]
Motor Disturbances
  • After the first year of life, the disease began with progressive motor disturbances followed by mental deterioration, seizures, and loss of vision. Several ophthalmoscopic examinations were performed.[docslide.com.br]

Workup

  • Workup for her over several years included routine blood tests, alpha-fetoprotein, vitamin E, copper, and ceruloplasmin titers, which were negative.[movementdisorders.org]
Acanthocytes
  • Peripheral smears for acanthocytes were also negative. Serum magnesium levels were normal. Considering a treatable differential diagnosis of Wilson's disease, she was evaluated and ruled out for the same.[movementdisorders.org]
Enlargement of the Liver
  • Furthermore, children with Type II do not have macular cherry-red spots, enlarged spleen or liver, or the facial changes.[encyclopedia.com]

Treatment

  • 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]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • The FDA has granted Lysogene’s drug, LYS-GM101, Rare Pediatric Disease Designation for the treatment of the rare neurodegenerative disease, GM1 Gangliosidosis (GM1).[raredr.com]
  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.de]
  • There is currently no treatment. More information on GM1 gangliosidosis can be obtained from NTSAD Association and Orphanet .[lysogene.com]

Prognosis

  • The prognosis of the disease is poor, with most affected individuals surviving only until mid-childhood or early adulthood.[cags.org.ae]
  • Prognosis In Type I GM1-gangliosidosis, the child dies within a few years after the symptoms begin, typically by age two. In Type II GM1-gangliosidosis, the prognosis is variable.[encyclopedia.com]
  • 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]
  • Prognosis Type I - Infantile - Type 1 will usually manifest within the first 6 months of life: Death usually occurs during the second year of life because of infection and cardiopulmonary failure.[jennysgm1journey.org]

Etiology

  • […] mutation of pseudogene Fabry病 偽遺伝子変異 1 不要 有 HPS1632 HPS1633 HPS1634 HPS1635 HPS1636 HPS1637 GM1-gangliosidosis GM1ガングリオシドーシス 1 不要 有 HPS1532 HPS1533 HPS1534 HPS1535 HPS1536 HPS1537 2 不要 有 HPS2337 HPS2338 HPS2339 HPS2340 Hunter syndrome, unknown genetic etiology[cell.brc.riken.jp]

Epidemiology

  • […] 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]
Sex distribution
Age distribution

Pathophysiology

  • […] 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]
  • Breakefield, genetics, and molecular pathophysiology, Prog. Nucleic Acid Res. Mol. Biol. 69 Beta-galactosidase gene mutations in patients with slowly progressive GM1 (2001) 81–114. gangliosidosis, J. Child Neurol. 12 (1997) 242–247.[21] M. Morita, S.[slideshare.net]

Prevention

  • 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]
  • Prevention and testing is the only dependable and preventative solution for Tay-Sachs disease. Works Cited (Reference) [1] Andersen, Leisha M. “Tay-Sachs disease.”[scholieren.com]
  • 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]

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