GM1 Gangliosidosis Type 2B – Juvenile
GM1 gangliosidosis Type 2B, or the juvenile form of the disease, occurs less frequently than infantile Type 1, and the progression of symptoms happens more slowly over time.
In Type 2B, children develop normally until the onset of symptoms. Diagnosis typically occurs between ages 2 and 10 years old. Just like those with Type 2A, the clinical symptoms of GM1 Type 2B that are readily observable are of intermediate severity. Abnormal enlargement of the spleen and liver may be absent in children with Type 2B, and facial coarsening typically develops and progresses over time.
Children diagnosed with juvenile GM1 can live into adulthood.
Symptoms of GM1 Gangliosidosis Type 2B
Children with the juvenile form of GM1 gangliosidosis experience slightly later onset of symptoms than those with the infantile Type 2A, generally after 2 years of age. Juvenile Type 2B presents with a more attenuated progression than late-infantile GM1, with regression and symptoms taking place at later ages and over longer spans of time. Type 2B is associated with variable survival, with estimated lifespans into the second or third decade.
Gangliosidosis Type 2A and 2B Shared Symptoms
- Hypotonia, muscle weakness
- Loss of speech, slurred speech
- Impaired eyesight, strabismus, nystagmus
- Clumsiness, falling, lack of coordination
- Loss of fine and gross motor skills
- Cognitive impairment
- Intellectual disability
- Cerebral atrophy
- Gait disturbance, ataxia
- Seizures
- Lethargy
- Scoliosis, flattened vertebrae
- Dystonia
Learn how juvenile GM1 has impacted sisters Kinley and Kennedy who were diagnosed with GM1 after meeting typical developmental milestones until about 5 years old.
And, learn how Enzyme Replacement Therapy could help provide a bridge to promising treatment.
Read Their Stories
Joey’s experience
“My daughter’s not able to tell me when she’s in pain, when she is hurting. I just have to guess. … I can just see her face. Just guessing what’s going on in her body.”
Ruth, mother of 20-year-old daughter living with Type 2B, juvenile GM1
Iris’ Experience
Help us find effective treatments and therapies so those living with GM1 can live long full lives
Donate to Cure GM1