It has three forms of presentation, which makes its identification even more challenging due to the wide clinical spectrum. The present study aims to describe a case of GM1 gangliosidosis in a male patient, born at 38 weeks. [scielo.br]

• 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]

• Dysostosis

  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 [ more ] 0005280 Dysostosis [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]

• Macula

  In GM1 gangliosidosis, only half of the patients have a cherry- red spot at the macula. [scielo.br]

  […] breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ] 0000455 Cardiomyopathy Disease of the heart muscle 0001638 Cherry red spot of the macula [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]

To date, there is no effective treatment for GM1 gangliosidosis, that is, the carrier of the disease only receives symptomatic and palliative care. [scielo.br]

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]

Thus, the early diagnosis of the disease is extremely important, as its only form of prevention, at the moment, is through genetic counseling(11 Brunetti-Pierri N, Scaglia F. [scielo.br]

[…] 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]