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Spastic paraplegia type 11
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Spastic paraplegia type 11

Spastic paraplegia type 11 is a complex hereditary disorder characterized by progressive muscle stiffness, lower limb paralysis, and neurological impairment.

Overview

Spastic paraplegia type 11 is a complex hereditary spastic paraplegia. Unlike "pure" types that only affect the lower limbs, complex types involve the lower limbs while also affecting the upper limbs, brain structure, and the peripheral nervous system.

Symptoms

The condition is progressive, with symptoms often becoming noticeable in adolescence. Key features include:

  • Muscle and movement: Progressive stiffness (spasticity), muscle weakness, and paralysis of the lower limbs.
  • Brain structure: The corpus callosum (the tissue connecting the two halves of the brain) is almost always abnormally thin.
  • Neurological: Intellectual disability, sensory neuropathy (numbness/pain in limbs), motor neuropathy, and exaggerated reflexes (hyperreflexia).
  • Other features: Speech difficulties (dysarthria), reduced bladder control, muscle wasting (amyotrophy), and occasionally difficulty swallowing or involuntary eye movements (nystagmus).

Causes

The disorder is caused by mutations in the SPG11 gene, which provides instructions for the protein spatacsin. While the exact function of spatacsin is unknown, it is expressed throughout the nervous system. Researchers believe it plays a role in the maintenance of axons—the specialized extensions of nerve cells that transmit impulses. Mutations likely interfere with this maintenance, leading to the progressive nerve and muscle damage seen in the condition.

Inheritance

Spastic paraplegia type 11 is inherited in an autosomal recessive pattern. Both copies of the SPG11 gene in each cell must contain mutations for the disorder to manifest. Parents of an affected individual are typically asymptomatic carriers.

Frequently Asked Questions

SPG11 follows an autosomal‑recessive pattern. Two carrier parents have a 25 % chance of having an affected child, a 50 % chance of having a carrier child, and a 25 % chance of having a child with two normal alleles. Carrier testing is available for at‑risk relatives using targeted mutation analysis. For family planning, options include pre‑implantation genetic diagnosis (PGD) with IVF, prenatal chorionic villus sampling, or amniocentesis to determine fetal genotype.
The first red flags are progressive lower‑limb stiffness or weakness beginning in adolescence, especially when accompanied by hyperreflexia, a thin or absent corpus callosum on brain MRI, and any signs of peripheral neuropathy (numbness or pain). If a child or teen shows this combination, especially with a family history of consanguinity or unexplained neuro‑developmental delay, clinicians usually recommend genetic testing for SPG11 mutations.
Diagnosis relies on two steps: (1) neuroimaging—MRI typically shows a markedly thin corpus callosum and sometimes cerebellar or spinal cord atrophy; (2) molecular confirmation—next‑generation sequencing panels for hereditary spastic paraplegia or whole‑exome sequencing that identify biallelic pathogenic variants in the SPG11 gene. Electrophysiological studies (EMG/NCS) can document peripheral neuropathy but are not diagnostic on their own.
There is no cure, so management focuses on symptom control: oral antispasmodics such as baclofen or tizanidine, botulinum toxin injections for focal spasticity, and intensive physiotherapy emphasizing stretching, gait training, and assistive devices (ankle‑foot orthoses, walkers). In some centers, intrathecal baclofen pumps are considered for severe, generalized spasticity. Occupational therapy helps with upper‑limb function, and speech therapy addresses dysarthria.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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