Spastic paraplegia 11
- Autosomal recessive spastic paraplegia type 11
- Hereditary spastic paraplegia 11
- Hereditary spastic paraplegia mental impairment and thin corpus callosum
- Nakamura Osame syndrome
- Nakamura-Osame syndrome
- Hereditary spastic paraplegia - Autosomal Dominant inheritance
- Hereditary spastic paraplegia - Autosomal recessive inheritance
Spasticity (progressive muscle stiffness)
Paraplegia (eventual paralysis of the lower limbs)
Numbness, tingling, or pain in the arms and legs
Disturbance in the nerves used for muscle movement
Exaggerated reflexes of the lower limbs
Reduced bladder control
Less common features, include:
Age at time of symptom onset varies from infancy to early adulthood, with onset in infancy to adolescence being most common. Learning disability may begin in childhood. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance (often 10 to 20 years after symptom onset).
The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 11. 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.
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.
- Spastic paraplegia type 11. Genetics Home Reference. 2009; http://www.ghr.nlm.nih.gov/condition=spasticparaplegiatype11. Accessed 4/21/2010.
- Stevanin G, Durr A, Brice A. Spastic paraplegia type 11. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg11. Accessed 4/21/2010.