• Short Stature

  stature Decreased body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Thickened skin Thick skin 0001072 [rarediseases.info.nih.gov]

• Failure to Thrive

  Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Corneal opacity 0007957 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ [rarediseases.info.nih.gov]

• Arthralgia

  […] limbs [ more ] 0000940 Abnormality of epiphysis morphology Abnormal shape of end part of bone 0005930 Aplasia/Hypoplasia of the abdominal wall musculature Absent/small abdominal wall muscles Absent/underdeveloped abdominal wall muscles [ more ] 0010318 Arthralgia [rarediseases.info.nih.gov]

• Corneal Opacity

  opacity 0007957 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dysostosis multiplex 0000943 Dysphagia Poor swallowing Swallowing [rarediseases.info.nih.gov]

Last updated: 11/17/2015 Treatment Treatment There is currently no effective medical treatment for GM1 gangliosidosis.[3][4] Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression [rarediseases.info.nih.gov]

Prognosis The long-term outlook (prognosis ) for people with GM1 gangliosidosis (GM1) depends on the type, age of onset, and severity of the condition in each person. [rarediseases.info.nih.gov]

[…] treatment due to its success in other lysosomal storage disorders.[4] Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials.[4][7] Neurologic and orthopedic sequelae may prevent [rarediseases.info.nih.gov]