Question: What is (are) GM1 gangliosidosis type 2 ?
Answer: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
Source: GARD

Question: What are the symptoms of GM1 gangliosidosis type 2 ?
Answer: What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the liver - Abnormality of the spleen - Ataxia - Autosomal recessive inheritance - Cerebral atrophy - Coxa valga - Gait disturbance - Generalized myoclonic seizures - Optic atrophy - Platyspondyly - Progressive psychomotor deterioration - Sea-blue histiocytosis - Spastic tetraplegia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD