Spastic paraplegia 11
Alternate names[edit | edit source]
SPG11; Hereditary spastic paraplegia mental impairment and thin corpus callosum; Autosomal recessive spastic paraplegia type 11; Hereditary spastic paraplegia 11; Nakamura Osame syndrome; Spastic paraplegia - intellectual deficit - thin corpus callosum
Definition[edit | edit source]
Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties (dysarthria), and reduced bladder control.
Cause[edit | edit source]
SPG11 is caused by mutations in the SPG11 gene.
Inheritance[edit | edit source]
SPG11 is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
- 25% (1 in 4) chance to be affected
- 50% (1 in 2) chance to be an unaffected carrier like each parent
- 25% chance to be unaffected and not be a carrier
Onset[edit | edit source]
- 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).
Signs and symptoms[edit | edit source]
Signs and symptoms of SPG11 may include:
- 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 (dysarthria)
- Reduced bladder control (Muscle wasting)
Less common features, include:
Diagnosis[edit | edit source]
The diagnosis of SPG11 is established in a proband with characteristic clinical and MRI findings and biallelic pathogenic variants in SPG11 identified on molecular genetic testing.[1][1].
Treatment[edit | edit source]
- Care for SPG11 is usually managed by a team including a primary care physician, neurologist, genetics professional (geneticist and/or genetic counselor), physical therapist, social worker, and psychologist.
- Treatment is focused on alleviating symptoms and may include:
- Medications for leg spasticity (antispastic drugs)
- Medications to assist in bladder control (anticholinergic antispasmodic drugs)
- Regular physician therapy
- Botulinum toxin and intrathecal baclofen for severe spasticity
- Regular outpatient clinic evaluations are recommended to adjust medications and physical therapy/rehabilitation routines.
- Routine brain MRI and electrophysiological investigations (muscle and nerve studies) may be useful to follow the progression of the disease.
Prognosis[edit | edit source]
The severity of symptoms in SPG11 worsen over time, with most individuals experiencing full clinical symptoms 10 years after onset. Most individuals with SPG11 require wheelchair assistance 10-20 years after onset. Intellectual disability and cognitive decline additionally typically worsen over time and may include short-term memory impairment, constant fluctuations in emotions, reduced verbal abilities, and attention deficits.
NIH genetic and rare disease info[edit source]
Spastic paraplegia 11 is a rare disease.
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- ↑ Stevanin G. Spastic Paraplegia 11. 2008 Mar 27 [Updated 2019 Dec 19]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1210/
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