3. Definition:
is a group of inherited diseases whose
main feature is progressive stiffness
and contraction (spasticity) in the lower
limbs , as a result of damage to or
dysfunction of the nerves.
4. 1-10 in 100,000 people worldwide
have HSP
Can affect people of all ages
, but average age at onset is 24
5. 1
2
3
4
• Hereditary spastic paresis
• Familial spastic paraplegia
• Strumpell-Lorrain disease:
first described 1883-1888
• French Settlement
6.
7. Based on
symptoms
Pure
HSP
Affects the legs only
More common
Bladder symptoms may
occur eg “urgency”
Complicated
HSP
Spastic paraplegia with a
variety of other problems
Other neurological problems
eg ataxia (poor balance)
Intellectual disability , dementia,
extrapyramidal signs,Seizures
10. Based on
patient's age
at onset
Type I
<35 years
Type II
>35 years
Spasticity>>weakness muscle weakness
urinary symptoms
sensory loss
spasticity
11. Based on associated gene
(Genetics)
Neuronal degeneration
mutations at specific
genes
Genetic mapping has identified at least 52 different
HSP loci, designated SPG 1 through 52
Different genetic types of HSP usually cannot be
distinguished by clinical and neuroimaging parameters
alone
12. SPG1 (Spastic Paraplegia 1)
Masa syndrome
Gareis-Mason syndrome
Crash syndrome
Mutation in Gene >>>>> L1 or L1CAM protein
Transmembrane protein >>>> neurite outgrowth
guidance, neuronal cell migration and survival
Locus = Xq28 X-Linked
13. SPG2
Mutation in Gene >>>>> Proteolipid protein
1(PLP1)
Transmembrane protein >>>> leukodystrophy
and dysmyelination, resulting in axonal
degeneration
Locus = Xq22 X-Linked
14. SPG4
Mutation in Gene SPAST >>>>> Spastin protein
Microtubule-severing protein >>> membrane
trafficking, intracellular motility, organelle
biogenesis, protein folding, and proteolysis
Locus = 2p22–p21 Autosomal dominant
15. SPG15
Kjellin syndrome
Mutation in Gene >>>>> ZFYVE26
progressive stiffness and increased reflexes
in the leg muscles as well as
retinal degeneration
Locus =14q24.1 Autosomal recessive
16. SPG17
Silver syndrome
Mutation in Gene BSCL2 >>>>> Seipin protein
Phenotype overlapping with distal spinal
muscular atrophy type VA
Locus = 11q13 Autosomal dominant
17. SPG18
Mutation in Gene >>>>> Erlin-2
Characterised by joint contractures
and intellectual disability
Locus = 8p11.23 Autosomalrecessive
23. Clinical Features
Symptoms depend on the type of HSP inherited
Main feature >>> progressive spasticity in the
lower limbs, due to pyramidal tract dysfunction
In the lower extremities, spasticity is increased at
the hamstrings, quadriceps and ankles
Weakness is most notable at the iliopsoas , tibialis
anterior, hamstring muscles
difficulty in walking, decreased vibratory sense at
the ankles, and paresthesia
In lower extremities hyperreflexia, brisk
reflexes, extensor plantar reflexes
25. additional symptoms in complicated
form include:
peripheral neuropathy, amyotrophy, ata
xia, mentalretardation, ichthyosis, epile
psy,optic neuropathy, dementia, deafne
ss, or problems with
speech, swallowing or breathing
27. Genetic testing
• Diagnostic
- Person is affected with symptoms
- Wants to know the cause
• Predictive
- Person not affected with symptoms
- Has a relative eg parent with HSP
29. Treatment
No specific treatment is known that
would prevent, slow, or reverse HSP
Available therapies mainly consist
of symptomatic medical management
and promoting physical and emotional
well-being
31. •
Baclofen– a voluntary muscle relaxant to relax muscles and
reduce tone
• Tizanidine – to treat nocturnal or intermittent spasms
• Diazepam and Clonazepam – to decrease intensity of spasms
• Oxybutynin chloride– an involuntary muscle relaxant and
spasmolytic agent, used to reduce spasticity of the bladder in
patients with bladder control problems
• Tolterodine tartate – an involuntary muscle relaxant and
spasmolytic agent, used to reduce spasticity of the bladder in
patients with bladder control problems
• Botulinu toxin – to reduce muscle overactivity
• Antidepressants (such as selective serotonin re-uptake
inhibitors, tricyclic antidepressants and monoamine oxidase
inhibitors) – for patients experiencing clinical depression
32. Physical Therapy
To restore and maintain the ability to move
To reduce muscle tone
To maintain or improve range of motion and
mobility
To increase strength and coordination
To prevent complications, such as frozen
joints, contractures, or bedsores.
