GM1 Gangliosidosis Type 1 – Infantile
Type 1 or infantile GM1 gangliosidosis is the most common and severe form of the disease. Onset of observable symptoms for Type 1 occurs by the age of six months, and may occur in utero with the development of non-immune hydrops fetalis, which is a condition where excessive fluid develops in the amniotic fluid and within the organs of the developing fetus.
The lifespan for patients with Type 1 for most patients does not exceed three years.
Symptoms of GM1 Gangliosidosis Type 1
Symptoms of Type 1 generally appear by age six months. They include the following:
· Severe hypotonia by six months of age
· Enlarged spleen, liver
· Enlarged head
· Inability to sit, roll
· Loss of head control
· Macular cherry-red spots
· Nystagmus
· Heart failure, cardiomyopathy
· Dystonia
· Skeletal abnormalities
· Coarse facial features
· Hearing impairment
· Breathing difficulties
· In utero development non immune hydrops fetalis
· No new developmental milestones typically occur after 3-6 months
Learn about Biborka’s experience as a baby diagnosed with GM1 gangliosidosis at 7 months of age.
Read Their Stories
Theodora’s experience
“My biggest fear is that [our son] will not have a long life and that in the meantime he will lose all of the abilities he has now, basic abilities like eating and motor skills. I worry about everything that can happen with the disease, including seizures and loss of all movement.”
Abby, Mother of a Son living with GM1 Type 1
Strahinja’s Experience
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