Hereditary Spastic Paraplegia (HSP) - Dr. Ayman Nashashibi
Hereditary Spastic Paraplegia (HSP) - Dr. Ayman Nashashibi
Dr. Ayman Nashashibi- Familial Spastic Paraparesis or
Hereditary Spastic Paraplegia (HSP), is identified is a group of hereditary,
degenerative, neurological disorders that primarily affect the upper motor
neurons, where the upper motor neurons and the spinal cord transmit signals to
the lower motor neurons as a mean to carry commands to the muscles.
In the case of HSP, upper motor neurons gradually degenerate,
causing the muscles to stop receive the correct commands, causing increased
muscle stiffness known as “spasticity”
illustration courtesy of Semantic Scholar
Prevalence
Hereditary spastic paraplegia has been reported in nearly every
country with an estimated frequency ranging from 0.5 to 12 people per 100,000,
but there isn’t an accurate data. However, based on the most recent study
by the Norwegian study rate of 7.4/100,000 of population has been estimated,
without any reporting to gender involved in the study, although male patients
were found to be significantly higher in number.
Average age of symptom onset is 24 years old. There is also
juvenile onset HSP which can show up in children of any age and tends to be
associated with more severe symptoms.
Symptoms
While the general feature of HSP is progressive fatigue and
stiffness of the legs, the symptoms slowly progress so that at some point,
patients with HSP may need assistance of a cane, walker, or wheelchair. Other
reported symptoms may occur, including:
• Babinski's
sign
• epilepsy
• hyperactive reflexes
• impaired vision
• ataxia
• Dementia
• urinary incontinence
• deafness
• difficulty with balance
• cognitive impairment
• peripheral neuropathy
Prognosis
The prognosis for individuals with HSP varies where some patients
are very disabled while others are with mild disability. However, the majority
of individuals with uncomplicated HSP live a normal life.
Hereditary factors
Most patients with HSP have inherited an abnormal gene from one of
their parents, but in other cases, there have been reports attributed to causes
when a child is conceived.
However, about 70-80% of cases
of Hereditary spastic paraplegia result from autosomal dominant inheritance,
and the remainder from autosomal recessive inheritance.
Treatment
Currently, there is no cure for HSP nor a way to reverse it or
pause it. However, many patients reported great benefits with foot surgery
where tendons are relocated, to fitness and focused treatment from
neurophysiotherapists for range of motion exercises and muscle strength.
Treatments reported to have
relieved of day-to-day activities have also been successful and include:
• Ankle-foot orthosis (a lower leg brace) can limit foot drop
• Muscle relaxants such as baclofen and tizanidine and
botulinum
• Antiepileptic and antinociceptive drugs such as Gabapentin
leading to reduced neurotransmitter release and attenuation of postsynaptic
excitability
• Betaine and Folinic Acid:
• Hydrotherapy: the effect of hydrotherapy treatment in
improving locomotor function in patients with late-onset HSP was evaluated in a
small, uncontrolled trial, where 9 patients underwent a 10-week course /45 min
per session of hydrotherapy, where significant pre- vs. post-therapy
differences were observed
• Physical therapy to maintain muscle strength and range
motion.
• Botox Injections relieve spasticity
• Dorsal Rhizotomy can be used to relieve spasticity in
cerebral palsy, but has also been tried in HSP
Conclusion
There is no general outlook for
patients with HSP, as some patients are very disabled and need a wheelchair,
while others only have a mild disability and do not need any walking aid.
Generally, most patients with
HSP live a normal active life, even if they have to rely on a wheelchair.
HSP does not usually affect life expectancy.
Support Groups
Genetic Alliance (http://www.geneticalliance.org/)
National Organization for Rare
Disorders (NORD) (https://rarediseases.org/)
Spastic Paraplegia Foundation
(https://sp-foundation.org/)
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