Deepika vegiraju at 15:22, 21 April 2021

2021-04-21T15:22:55Z

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== '''Alternate names''' ==
SPG3A; SPG3; Strumpell disease

== '''Definition''' ==
A rare, pure or complex subtype of [[hereditary spastic paraplegia]], with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb [[spasticity]] and weakness, associated with [[pes cavus]], diminished vibration sense, [[sphincter]] disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include [[scoliosis]], mild [[intellectual disability]], [[optic atrophy]], axonal motor neuropathy and/or distal amyotrophy.

== '''Cause''' ==
Mutations in the '''ATL1 gene''' cause spastic paraplegia type 3A.<ref>Hedera P. Spastic Paraplegia 3A. 2010 Sep 21 [Updated 2020 Jun 18]. 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/NBK45978/
</ref>[https://www.ncbi.nlm.nih.gov/books/NBK45978//].

== '''Inheritance''' ==
[[File:Autosomal dominant - en.svg|thumb|right|Autosomal dominant pattern, a 50/50 chance.]]
Spastic paraplegia type 3A is inherited in an [[autosomal dominant]] pattern.

== '''Signs and symptoms''' ==
Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by slowly progressive bilateral and mostly symmetric [[spasticity]] and weakness of the legs, and with a variable degree of diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
'''80%-99% of people have these symptoms'''
* [[Babinski sign]]
* Distal lower limb muscle weakness
* Lower limb [[hyperreflexia]](Overactive lower leg reflex)
* Lower limb [[spasticity]]

'''30%-79% of people have these symptoms'''
* Ankle clonus(Abnormal rhythmic movements of ankle)
* Distal lower limb [[amyotrophy]]
* Spastic [[gait]](Spastic walk)

'''5%-29% of people have these symptoms'''
* [[Hypoplasia]] of the [[corpus callosum]](Underdevelopment of part of brain called corpus callosum)
* Impaired vibratory sensation(Decreased vibration sense)
* [[Intellectual disability]], mild(Mental retardation, borderline-mild)
* Motor delay
* Toe walking(Toe-walking)
* Urinary urgency(Overactive bladder)

'''1%-4% of people have these symptoms'''
* [[Bradykinesia]](Slow movements)
* [[Dysarthria]](Difficulty articulating speech)
* Frequent falls
* Growth delay(Delayed growth)
* [[Hyperesthesia]]
* Lower limb [[hypertonia]]
* Rigidity(Muscle rigidity)

== '''Diagnosis''' ==
The diagnosis of ATL1-HSP is established in a proband with suggestive findings and almost exclusively a heterozygous pathogenic variant in ATL1 identified by molecular [[genetic testing]].<ref>Hedera P. Spastic Paraplegia 3A. 2010 Sep 21 [Updated 2020 Jun 18]. 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/NBK45978/
</ref>[https://www.ncbi.nlm.nih.gov/books/NBK45978//].

== '''Treatment''' ==
* Treatment is symptomatic.
* Medical treatment of spasticity may begin with oral [[baclofen]] or [[tizanidine]], followed by chemodenervation with [[Botulinum toxin|botulinum A]] or B toxins if oral antispasticity medications are not tolerated.
* Intrathecal baclofen pump may be considered for those who improve on oral baclofen but have significant systemic adverse effects.
* Medical therapy should be combined with intensive [[physical therapy]] focused on stretching and strengthening exercises that may help delay or minimize muscle tendon [[contracture]]s, [[scoliosis]], and foot deformities.
* Distal weakness (typically affecting foot [[dorsiflexion]]) can be ameliorated by ankle-foot [[Orthosis|orthoses]].
* Urinary urgency can be treated with [[anticholinergic]] [[antispasmodic drugs]].<ref>Hedera P. Spastic Paraplegia 3A. 2010 Sep 21 [Updated 2020 Jun 18]. 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/NBK45978/
</ref>[https://www.ncbi.nlm.nih.gov/books/NBK45978//].

<references />
{{CNS diseases of the nervous system}}
{{PNS diseases of the nervous system}}
{{Inherited disorders of trafficking}}
{{Authority control}}

{{DEFAULTSORT:Hereditary Spastic Paraplegia}}
[[Category:Systemic atrophies primarily affecting the central nervous system]]
[[Category:Genetic disorders with no OMIM]]
[[Category:Cytoskeletal defects]]
[[Category:Rare diseases]]
{{rarediseases}}
{{stub}}

Spastic paraplegia 3 - Revision history

Deepika vegiraju at 15:22, 21 April 2021