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Spastic Paraplegia

Paraplegia-Brachydactyly-Cone-Shaped Epiphysis Syndrome

Spastic paraplegia is a neurological syndrome that may be seen in numerous conditions that affect the spinal cord, primarily of vascular and inflammatory origin. The clinical presentation encompasses a variable degree of motor and sensory loss of the lower limbs, as well as bladder abnormalities and improper sphincter control. The diagnosis and the underlying cause can be revealed through a detailed neurological workup comprised of a lumbar puncture, imaging studies, and a thorough clinical examination.


Presentation

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].

Muscle Spasticity
  • . spas·tic par·a·ple·gi·a paresis of the lower extremities with increased muscle tone and spasmodic contraction of the muscles. spastic paraplegia Etymology: Gk, spasmos, spasm, para plege, stroke a form of partial paralysis mainly affecting older people[medical-dictionary.thefreedictionary.com]
  • This results in a progressive increase in muscle spasticity and weakness. The upper body may be minimally affected is some cases, resulting in problems with arm or speech and swallowing muscles.[biomediclabs.com]
  • Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes. Spasticity Spasticity is an increase in muscle tone with resulting stiffness.[emedicine.medscape.com]
  • One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and muscle spasticity reduction.[rarediseases.org]
Hyperreflexia
  • 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]
  • Specific Disease Summary: spastic paraplegia 12 OMIM report [SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12]() Human gene(s) implicated [RETICULON 2; RTN2]() Symptoms and phenotype Spastic paraplegia 12 is characterized by lower limb spasticity and hyperreflexia[flybase.org]
  • Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign.[journals.plos.org]
Clonus
  • 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]
  • This causes reduction of nerve transmission giving rise to various clinical manifestations such as paresthesias, loss of vibratory sensation, and proprioception.Severe weakness, spasticity, clonus, paraplegia, and urinary and fecal incontinence resulted[explainmedicine.com]
  • Other symptoms that commonly occur: increased urinary urgency and frequency; difficulty with balance; hyperactive reflexes clonus Babinski's sign diminished vibration sensation in feet; muscle spasms muscle pain; and pes cavus (high arched foot).[biomediclabs.com]
  • Ankle clonus, and extensor plantar responses are uniformly present. 41. Hoffman sign may be observed. 42. High-arched feet (pescavus) are generally present and are usually prominent in older patients. workup Genetic Testing 43.[slideshare.net]
Spastic Paralysis
  • paralysis and spastic paraplegia caused by HTLVI infection).[orpha.net]
  • 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]
  • 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]
  • Causes of HSP There is a rare form of infantile-onset ascending hereditary spastic paralysis (IAHSP) that is considered by some in the field of medical research to be a rare type of hereditary spastic paraplegia.[disabled-world.com]

Workup

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].

Treatment

  • 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 HSP Research Foundation is an incorporated, registered Australian charity that facilitates and funds research to find an effective treatment.[hspersunite.org.au]
  • Working together, we can discover treatments to prevent, reverse, and retard the progression of this condition.[med.umich.edu]

Prognosis

  • Prognosis The prognosis for individuals with HSP varies Some individuals are very disabled and others have only mild disability.[ninds.nih.gov]
  • 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]
  • Part I explores basic techniques to researching hereditary spastic paraplegia (e.g. finding guidelines on diagnosis, treatments, and prognosis), followed by a number of topics, including information on how to get in touch with organizations, associations[amazon.com]
  • Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited.[nature.com]
  • Prognosis: predicting symptoms and course of HSP As noted above, there is significant variation in HSP symptoms and their severity. This limits the certainty of making predictions.[rarediseases.org]

Etiology

  • Etiology To date, 31 different loci responsible for pure and complex HSP have been mapped.[orpha.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]
  • 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]
  • […] associated with immediate pain relief, improved quality of sleep and improved mobility. 1 At this point, the preponderance of clinical research related to HSP remains early-stage, focused on gaining a deeper understanding of the disease process and its etiology[raredr.com]

Epidemiology

  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • Summary Epidemiology HSP is estimated to affect 1 in 20 000 individuals in the general population of Europe, with variable frequencies in distinct populations (from 1.3 to 9/100 000 individuals).[orpha.net]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
  • Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology 2013;41:118-130. [ Links ] . Vanacore N, Bonifati V, Fabbrini G, et al. Epidemiology of multiple system atrophy.[scielo.br]
  • The purpose of this study was to describe the clinical presentation and molecular epidemiology of the largest cohort of HSP in Greece, comprising 54 patients from 40 families.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Pathophysiology HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns 35 .[scielo.br]

Prevention

  • 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. Find out more about the NCARDRS register .[nhs.uk]
  • Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier.[nhs.uk]
  • Working together, we can discover treatments to prevent, reverse, and retard the progression of this condition.[med.umich.edu]

References

Article

  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.

Symptoms

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