Spastic paraplegia is roughly defined as the weakness of the lower limbs accompanied by neurological deficits of the sensory, motor, and autonomic nervous system [1] [2]. Causes of spastic paraplegia are diverse. Ischemia of the spinal cord, from either damage or obstruction of the blood vessels supplying the lower portion of the spinal cord (the posterior and anterior spinal arteries), can arise from atherosclerosis, the formation of aneurysms, dissections, or trauma [1] [2] [3] [4] [5]. Conversely, hemorrhagic events (epidural, subdural, subarachnoid hemorrhage or hematomyelia) are important vascular disorders as well, whereas a number of inflammatory and infectious processes (spondylodiscitis, myelitis, abscesses in the epidural/subdural spaces, multiple sclerosis, etc.), but also genetic diseases (adrenoleukodystrophy) affecting the spinal cord might manifest with spastic paraplegia [1] [5] [6]. In addition, surgery should also be included as a possible etiology [1] [2]. Apart from weakness and impaired motor and sensory activity of the lower limbs, loss of bladder and anal sphincter control, as well as gait disturbances, are hallmarks of spastic paraplegia [1] [6]. Symptoms sometimes appear after minutes (in the case of vascular events), or days and even weeks after an infectious or inflammatory process is responsible for spinal cord damage (in which case fever frequently accompanies neurological signs) [1], while a transient clinical course is also described [2]. Spastic paraplegia can be severely debilitating and result in a marked quality of life reduction, and some studies have implicated the psychological burden of this condition in many patients [7].

• Cutis Laxa

  Aligianis, Loss of 18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome, Molecular Genetics & Genomic Medicine, 2, 4, (319-325), (2014). [doi.org]

• Plantar Hyperkeratosis

  In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). [ncbi.nlm.nih.gov]

• Hyperkeratosis

  In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). [ncbi.nlm.nih.gov]

• Muscle Spasticity

  It is accompanied by irritability and spastic contractions of the leg muscles. spastic paraplegia Paralysis of both lower limbs with muscle spasm. This may be due to diseases of the brain or spinal cord, spinal nerve roots or peripheral nerves. [medical-dictionary.thefreedictionary.com]

  Lower motor neurons then carry the messages out to the muscles. This results in a progressive increase in muscle spasticity and weakness. [biomediclabs.com]

  Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. [sp-foundation.org]

• Self-Mutilation

  Hereditary sensory and autonomic neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self-mutilating behavior. [ncbi.nlm.nih.gov]

• Self-Mutilation

  Hereditary sensory and autonomic neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self-mutilating behavior. [ncbi.nlm.nih.gov]

• Neonatal Onset

  We describe a 12-year-old boy with neonatal onset of extremely severe complicated spastic paraplegia 3A associated with a de novo c.1226G>A (p.G409D) mutation in ATL1, a gene which encodes atlatsin GTPase 1. [ncbi.nlm.nih.gov]

• Hyperreflexia

  This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. [ncbi.nlm.nih.gov]

  People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [icdlist.com]

  The SCA7 is found to be associated with retinopathy or blindness where as the SCA 8 may cause hyperreflexia, decreased sense of vibration, as well as ataxic dysarthria.[6]. [explainmedicine.com]

  Neurologic examination of individuals with this mutation may show dysmetria in the upper extremities, hyperreflexia, distal amyotrophy and ankle clonus, in addition to spasticity, weakness and dysarthria. [en.wikipedia.org]

• Clonus

  This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. [ncbi.nlm.nih.gov]

  Neurologic examination of individuals with this mutation may show dysmetria in the upper extremities, hyperreflexia, distal amyotrophy and ankle clonus, in addition to spasticity, weakness and dysarthria. [en.wikipedia.org]

  The knee-jerk is excessive and ankle-clonus is easily obtained. In the advanced stage, if the disease has extended high up the cord, the upper extremities become involved. [henriettes-herb.com]

  Increased muscle tone Involuntary movements Spasms (quick and/or sustained involuntary muscle contractions) Clonus (series of fast involuntary contractions) Pain or discomfort Less ability to function Problems with care and hygiene Abnormal posture Contracture [my.clevelandclinic.org]

• Spastic Paralysis

  A wide variety of insults to the corticospinal tract result in spastic paralysis. The hereditary spastic paraplegias (HSPs) are single gene disorders in which... References 1. [link.springer.com]

  Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002; 71(3):518-527. [siicsalud.com]

  Hereditary spastic paraplegia (HSP) is an umbrella term for a group of inherited genetic neurological conditions which can be associated with a range of severe symptoms but whose clinical hallmark is spastic paralysis of the legs. [raredr.com]

  […] be: stiff (spastic paralysis), with occasional muscle spasms floppy (flaccid paralysis) numb, painful or tingly When to see your GP See your GP if you have paralysis or weakness that: started gradually is getting slowly worse comes and goes Your GP can [nhs.uk]

• Pyramidal Tract Signs

  SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. [uniprot.org]

  tract signs or HSP with cerebellar ataxia. [nature.com]

• Bilateral Babinski's Reflex

  On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes. Urinary dysfunctions and impaired vibration sense in the lower limbs were observed. [ncbi.nlm.nih.gov]

Because of the fact that numerous conditions comprise this neurological syndrome in its clinical presentation (but also because time is of the essence when it comes to neurological injury), it is necessary to conduct a rapid but comprehensive clinical, laboratory, and imaging workup. Firstly, physicians should a obtain a detailed patient history that reveals preexisting disorders or events (eg. trauma) and assesses the course and progression of symptoms, whereas a properly conducted neurological examination (evaluation of sensory and motor function) can be sufficient to recognize spastic paraplegia [1]. As soon as clinical suspicion is raised, imaging studies of the thoracic and lumbar spine in the form of magnetic resonance imaging (MRI), particularly contrast-enhanced and diffusion-weighed imaging (DWI), must be employed [1] [5]. A lumbar puncture is also a key component of the diagnostic workup in patients with spastic paraplegia, as it can provide clear indications whether an infectious or inflammatory process is active, by showing an increased cell count (pleocytosis) and predominance of neutrophils/lymphocytes, while the content of protein and glucose in the cerebrospinal fluid is equally important [1]. If the diagnosis is still not conclusive, imaging studies should cover the endocranium and evoked potentials may be necessary, in order to exclude demyelinating diseases [1].

• Hepatocellular Carcinoma

  ANN NEUROL 2010;67:516–525 Citing Literature Number of times cited according to CrossRef: 18 Lifeng He, Xiaoxiao Fan, Yirun Li, Bin Cui, Zhaoqi Shi, Daizhan Zhou and Hui Lin, Aberrant methylation status of SPG20 promoter in Hepatocellular Carcinoma: a [doi.org]

Treatment There are no specific treatments to prevent, slow, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. [ninds.nih.gov]

It was a three-treatment crossover study with randomization of the six different sequences of the three-treatments. [frontiersin.org]

Giampietro Schiavo, successfully finding a way to transport treatment to motor neurons solves half the problem of treating neurological disorders. [hereditaryspasticparaplegia.wordpress.com]

Currently, treatment for HSP simply involves muscle relaxants to help spasticity, as well as regular physical therapy. [medicaldaily.com]

Prognosis The prognosis for individuals with HSP varies Some individuals are very disabled and others have only mild disability. [ninds.nih.gov]

Prognosis The prognosis for individuals with HSP varies Some individuals are very disabled and others have only mild disability. The majority of individuals with uncomplicated HSP have a normal life expectancy. [brainfacts.org]

Prognosis Prognosis depends on the phenotype (pure/complex form), genotype, and is highly variable due to incomplete penetrance and variable gene expression. [orpha.net]

Diagnosis and Prognosis: The diagnosis is usually made by a neurologist. The MRI may show some loss of tissue in certain areas of the brain but this is nondiagnostic. [disorders.eyes.arizona.edu]

The overall prognosis for HSP varies significantly with the subtype of HSP inherited. [news-medical.net]

In addition, surgery should also be included as a possible etiology. [symptoma.com]

Etiology .—The disease generally occurs in neurotic families and between the ages of twenty-five and forty, males being more frequently affected. [henriettes-herb.com]

Etiology The disease is due to the dysfunction of the upper motor neurons of the corticospinal tract. To date, more than 80 genes have been linked. [orpha.net]

Progressive multiple sclerosis MS is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system of unknown etiology. Peak age of onset in Primary progressive MS is around 40 years. [explainmedicine.com]

Epidemiology/Etiology The cause of paraplegia due to a spinal cord injury is most often by a car accident. It can also result from a firearm injury, which is not the case in many countries in the world. [physio-pedia.com]

Consequently, they are often approached together in epidemiological studies. [karger.com]

GBA2; 9p13 SPG48: AP5Z1; 7p22 SPG 62: ERLIN1; 10q24 SPG 75: MAG; 19q13 SPG 76: CAPN1; 11q13 SPG 79: UCHL1; 4p13 Spastic Ataxia 1, Hereditary (SPAX1) 21 ● Vesicle-related membrane protein 1 (VAMP1; Synaptobrevin; SYB1) ; Chromosome 12p13.31; Dominant Epidemiology [neuromuscular.wustl.edu]

Summary Epidemiology The prevalence of hereditary spastic paraplegia (HSP) is highly variable, ranging from 1/11,000-77,000 in Europe. Clinical description Clinically, HSPs can be divided into the pure and complex form. [orpha.net]

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Epidemiology The global prevalence of HSP is difficult to quantify due to the lack of epidemiological studies of acceptable quality and the difficulty of diagnosing HSP, as it overlaps with other neurological diseases [12]. [physio-pedia.com]

This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia. [ncbi.nlm.nih.gov]

To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, we studied 8 consecutive patients presenting with hereditary spastic paraplegia due to GJA1 variants. Clinical disease severity was highly variable. [ajnr.org]

These studies illustrate neuropathological similarities between spastic paraplegias and ALS, and highlight the pathophysiological continuum of motor neuron degeneration. [icm-institute.org]

See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively [mayomedicallaboratories.com]

PATHOPHYSIOLOGY 6. Impaired cellular membrane trafficking 7. More particularly axonal transport of macromolecules and organelles. 8. Mutation of proteins, spastin and atlastin-1 causes impaired cellular membrane trafficking. [slideshare.net]

Treatment There are no specific treatments to prevent, slow, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. [ninds.nih.gov]

The NCARDRS helps scientists identify more effective ways of treating or preventing rare conditions. You can opt out of the register at any time. [nhs.uk]

Its function is to prevent the delicate nerve tissue from the inside of the vertebrae. [physio-pedia.com]

1. Hess Ch. Non-traumatic acute transverse spinal cord syndromes. [Article in German] Praxis (Bern 1994). 2005;94(30-31):1151-1159.
2. Afshinmajd S, Khalaj A, Roohani Y, et al. Acute paraplegia after general anesthesia. Acta Med Iran. 2011;49(8):560-564.
3. Räty S, Rantanen K, Sundararajan S, Strbian D. Acute chest pain and paraparesis. Stroke. 2015;46(5):e111-113.
4. Sellner J, Luthi N, Schupbach WM, et al. Diagnostic workup of patients with acute transverse myelitis: spectrum of clinical presentation, neuroimaging and laboratory findings. Spinal Cord. 2009;47:312-317.
5. Gornas MA, Mesallamy AAE, Obeid TH, Babiker AE. An adult male with acute paraplegia. Saudi Med J. 2014;35(10):1285-1287.
6. Bargiela D, Eglon G, Horvath R, Chinnery PF. An under-recognised cause of spastic paraparesis in middle-aged women. Pract Neurol. 2014;14(3):182-184.
7. Qureshi AZ, Adiga S. Adductor tenotomy and selective obturator neurectomy for the treatment of spasticity in a man with paraplegia. J Spinal Cord Med. 2013;36(1):36-39.