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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Spastic paraplegia 11


Other Names for this Disease

  • Autosomal recessive spastic paraplegia type 11
  • Hereditary spastic paraplegia 11
  • Hereditary spastic paraplegia mental impairment and thin corpus callosum
  • Nakamura Osame syndrome
  • Spastic paraplegia - intellectual deficit - thin corpus callosum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of spastic paraplegia 11?

Signs and symptoms of spastic paraplegia 11, include:[1][2]

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
Intellectual disability
Exaggerated reflexes of the lower limbs 
Speech difficulties 
Reduced bladder control 
Muscle wasting 

Less common features, include:[1]

Difficulty swallowing 
High-arched feet 
Scoliosis 
Involuntary movements of the eyes

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).[1][2]

Last updated: 4/21/2010

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.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of eye movement 90%
Aplasia/Hypoplasia of the corpus callosum 90%
Cerebral cortical atrophy 90%
Cognitive impairment 90%
Gait disturbance 90%
Hypertonia 90%
Incoordination 90%
Neurological speech impairment 90%
Seizures 90%
Ventriculomegaly 90%
Hyperreflexia 7.5%
Abnormality of the periventricular white matter -
Adult onset -
Agenesis of corpus callosum -
Ankle clonus -
Ataxia -
Autosomal recessive inheritance -
Babinski sign -
Cerebral cortical atrophy -
Childhood onset -
Decreased number of peripheral myelinated nerve fibers -
Degeneration of the lateral corticospinal tracts -
Distal peripheral sensory neuropathy -
Dysarthria -
Dysphagia -
Gaze-evoked nystagmus -
Hyperreflexia -
Hypoplasia of the corpus callosum -
Impaired vibration sensation in the lower limbs -
Intellectual disability -
Knee clonus -
Lower limb muscle weakness -
Lower limb spasticity -
Macular degeneration -
Mental deterioration -
Motor polyneuropathy -
Obesity -
Pes cavus -
Progressive disorder -
Retinal degeneration -
Sensory neuropathy -
Spastic gait -
Spastic paraplegia -
Specific learning disability -
Thenar muscle atrophy -
Tip-toe gait -
Urinary bladder sphincter dysfunction -
Urinary incontinence -
Urinary urgency -
Visual impairment -

Last updated: 11/3/2014

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.


References
  1. Spastic paraplegia type 11. Genetics Home Reference. 2009; http://www.ghr.nlm.nih.gov/condition=spasticparaplegiatype11. Accessed 4/21/2010.
  2. 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.


Other Names for this Disease
  • Autosomal recessive spastic paraplegia type 11
  • Hereditary spastic paraplegia 11
  • Hereditary spastic paraplegia mental impairment and thin corpus callosum
  • Nakamura Osame syndrome
  • Spastic paraplegia - intellectual deficit - thin corpus callosum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.