Signs and Symptoms
The infantile form may cause spastic quadriparesis and mental retardation. Infants may require feeding assistance because feeding may become difficult. They often have an enlarged head circumference, and increased intracranial pressure due to hydrocephalus. Other possible signs and symptoms may include megalencephaly, failure to thrive, seizures, and progressive psychomotor retardation.
The juvenile form is characterized by the inability to cough and difficulty swallowing and talking. The extremities, especially the legs, may be spastic and weak. Other possible signs and symptoms may include vomiting, kyophoscoliosis, slow decline in mental function, spasticity, and ataxia.
The adult form of this disorder is the most rare, and in most cases, the most mild. Impaired coordination, speech articulation difficulty, sleep disturbances, and swallowing difficulties may occur.