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Juvenile GM2-Gangliosidosis
Juvenile GM 2 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]

Clinical symptoms of GM1 gangliosidosis type I are presented during the first month of life. [bmcmedgenet.biomedcentral.com]

Ballooned neurons are present throughout the CNS. Clinical variation is noted. [emedicine.medscape.com]

Similarly, 5 non-consanguineous Galician heterozygous B1 variant carriers were identified, with all cases presenting the R178H mutation. [scielo.br]

The mean time from the initial presenting symptoms to the diagnosis was 7.5 ± 8.3 years (range: 0.3–26.8 years). [ncbi.nlm.nih.gov]

Entire Body System

  • Developmental Delay

    Initial symptoms of the infantile forms include profound hypotonia and developmental delay, followed by progressive neurological decline of motor skills, development of feeding difficulties, and onset of seizures. [ncbi.nlm.nih.gov]

Liver, Gall & Pancreas

  • Hepatosplenomegaly

    In type II of the disease, patients usually do not present distinctive facial features, hepatosplenomegaly and cherry red spot, making the diagnosis perplexed. [bmcmedgenet.biomedcentral.com]

    As the disease progresses, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, profound intellectual disability, and clouding of the clear outer covering of the eye (the [medlineplus.gov]

    However, with Sandhoff's disease there is a gross pathology in the visceral organs, such as endocardial fibrosis and hepatosplenomegaly (1). [scielo.br]

Eyes

  • Visual Impairment

    Signs and symptoms may include: slowing of growth plateau of gross and fine motor development developmental regression poor muscle tone (hypotonia) exaggerated startle reaction seizures visual impairment hearing loss intellectual disability Treatment [childrenshospital.org]

  • Visual Impairment

    Signs and symptoms may include: slowing of growth plateau of gross and fine motor development developmental regression poor muscle tone (hypotonia) exaggerated startle reaction seizures visual impairment hearing loss intellectual disability Treatment [childrenshospital.org]

Musculoskeletal

  • Muscular Atrophy

    Translated title of the contribution Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset Original language French Pages (from-to) 120-123 Number of pages 4 Journal Revue Neurologique Volume 153 Issue number 2 State Published - Mar [cris.tau.ac.il]

    Some patients may present with symptoms suggesting spinocerebellar degeneration, Friedreich ataxia, amyotrophic lateral sclerosis, or spinal muscular atrophy. The patient's intellect may be either mildly impaired or within normal limits. [emedicine.medscape.com]

    Hexosaminidase-A deficiency presenting as atypical juvenile-onset spinal muscular atrophy. Arch Neurol. 1985;42:1176–1180. [PubMed] [Google Scholar] 55. Oates CE, Bosch EP, Hart MN. [ncbi.nlm.nih.gov]

Neurologic

  • Convulsions

    In general the pathology is very similar for the classic forms of Sandhoff's and Tay-Sachs disease, and deficiency of the GM2 activator, with involutional neurodegenerative symptoms, associated with alterations of language, deambulation, dystonia, convulsions [scielo.br]

  • Psychomotor Regression

    TSD is usually diagnosed when the patient is in early adolescence, although some psychomotor regression may begin in early childhood. [emedicine.medscape.com]

Workup

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

Research has included Gene Therapy, Molecular Chaperone, Substrate Inhibition, Stem Cells, and Bone Marrow Treatment. [ntsad.org]

Signs and symptoms may include: slowing of growth plateau of gross and fine motor development developmental regression poor muscle tone (hypotonia) exaggerated startle reaction seizures visual impairment hearing loss intellectual disability Treatment [childrenshospital.org]

No treatments are currently approved for the gangliosidoses, and development of treatments is impaired by limited understanding of the natural history of these diseases. [ncbi.nlm.nih.gov]

Medical care Enzyme replacement has not yet been successful. [13] Because no specific treatment is available for TSD, treatment is directed at the symptoms and major associated conditions. [emedicine.medscape.com]

Supportive treatment includes ensuring proper nutrition and hydration, keeping the airway open, and seizure control with anticonvulsants. Genetic counseling is recommended for affected individuals and their families. [rarediseases.org]

Prognosis

This subacute phenotype of the B1 variant could be due to the presence of a defective allele, with the mutated Hex A conserving a residual in vivo activity against the GM2 ganglioside (1,7), although the prognosis of the disease is poor, with rapid deterioration [scielo.br]

Prevention

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]

In 1970, TSD became the prototype for genetic disease prevention. North American individuals with a family history positive for a GM2 gangliosidosis or Ashkenazi Jewish heritage agreed to be tested. [emedicine.medscape.com]

In Tay-Sachs disease, mutations in the HEXA gene result in a defective α-subunit [4], whereas in Sandhoff disease, mutations in the HEXB gene prevent normal β-subunit production [[1], [2], [3]]. [ncbi.nlm.nih.gov]

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