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hereditary spastic paraplegia (familial spastic paralysis)
Pathology:
1) degeneration of corticospinal axons (primary)
2) in complicated cases
a) optic neuropathy
b) retinopathy
Clinical manifestations:
1) progressive weakness & spasticity of the legs (primary)
2) progression & the severity of symptoms is variable
3) initial symptoms may include
a) difficulty with balance
b) weakness & stiffness in the legs
c) muscle spasms
d) dragging the toes when walking
4) bladder symptoms i.e. incontinence may occur
5) weakness & stiffness may spread to other parts of the body
6) in complicated cases
a) mental retardation &/or dementia
b) ataxia
c) ichthyosis
d) peripheral neuropathy
e) deafness
Management:
1) no specific treatment
2) physical therapy for improving muscle strength & preserving range of motion.
3) prognosis
a) some cases are seriously disabling while others are less disabling & are compatible with a productive & full life
b) majority of individuals with HSP have a normal life expectancy
Specific
spastic paraplegia type 1
spastic paraplegia type 2 (X-linked)
spastic paraplegia type-10
spastic paraplegia type-11
spastic paraplegia type-13
spastic paraplegia type-17 (silver spastic paraplegia syndrome)
spastic paraplegia type-20 (Troyer syndrome)
spastic paraplegia type-21 (Mast syndrome, SPG21)
spastic paraplegia type-31
spastic paraplegia type-33
spastic paraplegia type-4 (Strumpell-Lorrain syndrome)
spastic paraplegia type-6
spastic paraplegia type-7
spastic paraplegia type-8
General
genetic disease of the central nervous system
spastic paraplegia
Database Correlations
OMIM 308750
References
- NINDS Hereditary Spastic Paraplegia Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Hereditary-Spastic-Paraplegia-Information-Page