First signs - Early symptoms of Gangliosidosis-1 (GM-1) include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps.
Gradual Loss of skills - Over time children with GM-1 slowly decline, losing their ability to walk, eat on their own and communicate. Children are prone to respiratory infections and often experience recurrent bouts of pneumonia. Many have seizures.
Range of Severity - Juvenile GM-1 has a broad range of severity. In most cases, the earlier the first signs are observed, the more quickly the disease will progress. For example, a child with first symptoms at age 2 will decline faster than a child with first symptoms at age 5.
Gangliosidosis-1 (GM-1) is diagnosed through a blood test to check the level of beta-galactosidase (GLB1). A follow-up DNA test may be recommended. Any doctor can order the GM-1 GLB1 blood test. Often, diagnosis is made by a neurologist or geneticist.
Children affected by Juvenile form of GM-1 disease do not exhibit the tell-tale cherry-red spot in the eye. This can make the road to diagnosis long and challenging. Unfortunately many healthcare providers are not aware of the rare juvenile forms of these diseases and dismiss the initial diagnosis due to the age of the child.
There
is no treatment or cure for GM-1 disease but there are ways to
manage symptoms. These range from life extending interventions like a
feeding tube to comfort measures like massage to promote relaxation.
Progressive
loss of ambulatory skills followed by respiratory health and
seizure
management are the main symptom management issues in Juvenile GM-1.
Recommendations for managing the symptoms appear in Infantile & Juvenile Support.
Newly diagnosed families should read Finding Your Philosophy of Care, available through NTSAD. It will help parents develop a care plan and care goals to aid in major care choices.
