- Overview of Spinal Cord Disorders
- Acute Transverse Myelitis
- Cauda Equina Syndrome
- Cervical Spondylosis and Spondylotic Cervical Myelopathy
- Hereditary Spastic Paraplegia
- Spinal Cord Arteriovenous Malformations (AVMs)
- Spinal Cord Autonomic Dysreflexia
- Spinal Cord Compression
- Spinal Cord Infarction
- Spinal Epidural Abscess
- Spinal Subdural or Epidural Hematoma
- Subacute Combined Degeneration
- Syrinx of the Spinal Cord or Brain Stem
- HTLV-1–Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP)
Hereditary spastic paraplegia is a group of rare hereditary disorders characterized by progressive, spinal, nonsegmental spastic leg paresis, sometimes with intellectual disability, seizures, and other extraspinal deficits. Diagnosis is clinical and sometimes by genetic testing. Treatment is symptomatic, including medications to relieve spasticity.
(See also Overview of Spinal Cord Disorders.)
The genetic basis of hereditary spastic paraplegia varies and, for many forms, is unknown. There are over 80 known gene mutations for hereditary spastic paraplegia (1).
In all forms, the descending corticospinal tracts and, to a lesser extent, the dorsal columns and spinocerebellar tracts degenerate, sometimes with loss of anterior horn cells.
Onset can be at any age, from the first year of life to old age, depending on the specific genetic form. Hereditary spastic paraplegia affects both sexes.
Reference
1. OMIM (Online Mendelian Inheritance in Man). An online catalog of human genes and genetic disorders. Accessed January 27, 2025.
Symptoms and Signs of Hereditary Spastic Paraplegia
Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses. Urinary dysfunction is relatively common, with urgency being an early manifestation. Sensation is usually spared though subtle distal vibratory loss may be found on examination. The arms are usually spared. Deficits are not localized to a spinal cord segment.
In some forms, patients also have extraspinal neurologic deficits (eg, spinocerebellar and ocular symptoms, extrapyramidal symptoms, optic atrophy, retinal degeneration, hearing loss, intellectual disability, dementia, epilepsy, polyneuropathy, dysmorphic features [eg, macrocephaly, microcephaly, short stature, facial dysmorphisms, and other complex deformative syndromes]).
Diagnosis of Hereditary Spastic Paraplegia
History and physical examination
Sometimes genetic testing
Hereditary spastic paraplegia is suggested by a family history and any signs of spastic paraplegia.
Diagnosis of hereditary spastic paraplegia is by exclusion of other causes and sometimes (eg, if the cause is unclear) by genetic testing. Consultation with a genetic counselor is recommended.
Treatment of Hereditary Spastic Paraplegia
Symptomatic, including medications to relieve spasticity
Treatment for all forms of hereditary spastic paraplegia is symptomatic. Baclofen or tizanidine is given for spasticity (Treatment for all forms of hereditary spastic paraplegia is symptomatic. Baclofen or tizanidine is given for spasticity (1). Alternatives include diazepam, clonazepam, dantrolene, and botulinum toxin (botulinum toxin type A or botulinum toxin type B). Anticholinergic agents, such as oxybutynin, may be used for bladder spasticity.). Alternatives include diazepam, clonazepam, dantrolene, and botulinum toxin (botulinum toxin type A or botulinum toxin type B). Anticholinergic agents, such as oxybutynin, may be used for bladder spasticity.
Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent spasms. Some patients benefit from using splints, a cane, or crutches.
Treatment reference
1. Shribman S, Reid E, Crosby AH, Houlden H, Warner TT. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol. 2019;18(12):1136-1146. doi:10.1016/S1474-4422(19)30235-2
Key Points
In all forms of hereditary spastic paraplegia, the descending corticospinal tracts and, to a lesser extent, the dorsal columns and spinocerebellar tracts degenerate.
Patients have spastic paraparesis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses; some forms cause extraspinal neurologic deficits.
Suspect hereditary spastic paraplegia in patients with a family history and signs of spastic paraplegia; exclude other causes and if the diagnosis is unclear, consider genetic testing.
Treat symptoms (eg, baclofen or tizanidine for spasticity, physical therapy).Treat symptoms (eg, baclofen or tizanidine for spasticity, physical therapy).
