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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 7

Hereditary spastic paraplegia 7

Synonyms
Autosomal recessive spastic paraplegia type 7; Hereditary spastic paraplegia Paraplegin type; Spastic paraplegia 7
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spastic Paraplegia 7
Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral leg weakness and spasticity. Most affected individuals have decreased vibration sense and cerebellar signs. Onset is mostly in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years. Additional features including ataxia (gait and limbs), spastic dysarthria, dysphagia, pale optic disks, ataxia, nystagmus, strabismus, ptosis, hearing loss, motor and sensory neuropathy, amyotrophy, scoliosis, pes cavus, and urinary sphincter disturbances may be observed.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Giorgio Casari
Roberto Marconi
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Available tests

75 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (75 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAR, CMAR, PGN, SPG5C, SPG7
    Summary: SPG7 matrix AAA peptidase subunit, paraplegin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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