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].
Entire Body System
- Cerebral Palsy
Symptoms beginning in early childhood may resemble spastic cerebral palsy. The function of ATAD3A, a mitochondrial inner membrane AAA ATPase, is yet undefined. [ncbi.nlm.nih.gov]
HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as, for example, spastic diplegia. The origins of HSP are entirely separate phenomena from cerebral palsy. [dbpedia.org]
Spastic is the most common form of cerebral palsy which affects 70 to 80 percent of patients. Spastic cerebral palsy symptoms include increased tension in a muscle. [cerebralpalsylawdoctor.com]
Palsy, Spastic Quadriplegic, 5, Formerly; CPSQ5 SPG50: Cerebral Palsy, Spastic Quadriplegic, 3, Formerly; CPSQ3 SPG51: Cerebral Palsy, Spastic Quadriplegic, 4, Formerly; CPSQ4 SPG52: Cerebral Palsy, Spastic Quadriplegic, 6, Formerly; CPSQ6 This tells [hspjourney.blogspot.com]
- Chills
Histology and immunomicroscopy Third instar larvae were dissected in chilled Ca 2+ -free HL3 solution ( Stewart et al., 1994 ), and fixed for 30 min in PBS with 4% formaldehyde. [elifesciences.org]
Eyes
- Prolapse
Compressive: Prolapsed disc, tumour (primary or secondary, benign or malignant), abscess, Pott’s disease, haematoma or haemorrhage; or a parasaggital meningioma. [ptpaces.wordpress.com]
Troyer syndrome shares some features with ARSACS ( a utosomal r ecessive s pastic a taxia of C harlevoix- S aguenay); however, nystagmus, abnormalities of ocular movement, and mitral valve prolapse are not features of Troyer syndrome. [ncbi.nlm.nih.gov]
Musculoskeletal
- Muscle Spasm
Eve Glazier, Dr.Elizabeth Ko, genetic testing, Genetics, Healthy Living, hereditary spastic paraplegia, muscle spasms, progressive weakness, Spastic Paraplegia Foundation, Wellness [connect.uclahealth.org]
Common Causes of Spasms While almost anything can cause a muscle spasm, there are several causes that reign supreme. [spinalpedia.com]
Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [uniprot.org]
A person may develop tightness in the leg muscles as a result of spasticity and may suffer from leg cramps and muscle spasms. [medifix.ie]
[…] 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]
- 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]
Individuals report various levels of improvement in spasticity levels of leg, arm, and bulbar (speech/swallowing) muscles. In extreme cases of spasticity, some individuals benefit by botulinum toxin, which is injected directly into the muscle. [sp-foundation.org]
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.presencehost.net]
- Muscle Cramp
There are three main features of FSP: the legs become stiff (spasticity) and there is a variable amount of weakness (paraplegia), and muscle cramps and spasms can also be present. [contact.org.uk]
Stretching exercises – These help to maintain or increase ROM and to reduce muscle cramps. Aerobic exercises – 51. These improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness. 52. [slideshare.net]
Hyperreflexia, extensor plantar response and increased muscle tone are the recognized UMN signs where as the weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations are the recognized LMN signs. [explainmedicine.com]
- Foot Deformity
Non-neurological manifestations may include ophthalmological abnormalities (cataracts, retinitis pigmentosa, macular degeneration), and orthopedic abnormalities (scoliosis, joint dislocation, and different foot deformities). [orpha.net]
Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. [flybase.org]
In case of prominent distal weakness affecting foot dorsiflexion it is reasonable to use ankle-foot orthoses. Secondary deformities such as scoliosis, tendon contractures and foot deformities may require surgical management. [scielo.br]
Neurologic
- 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]
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]
People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [icdlist.com]
People with this form of spastic paraplegia may also have hyperreflexia in the arms, dysarthria, dysphagia, nystagmus, mild hearing loss, scoliosis, foot arch elevation, sensory neuropathy, motor neuropathy and amiotrofia. [ivami.com]
- 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]
- Nystagmus
A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus. [ncbi.nlm.nih.gov]
Some difference of opinion exists 4,5 regarding the full range of clinical manifestations of spastic paraplegia, but families have been reported with mental defect, optic atrophy, nystagmus, ataxia, seizures, rigidity, muscle atrophy, kyphosis, pes cavus [doi.org]
[…] chondrocytes Arnold-Chiari Malformation ● Autosomal Recessive or Sporadic ● With Syringomyelia Nosology: Chiari malformation Type 2 Anatomy: Cerebellar tonsils herniate through foramen magnum Clinical Onset: Childhood & Adult Brainstem signs Downbeat nystagmus [neuromuscular.wustl.edu]
Neurological features may include cerebellar dysfunction (ataxia, nystagmus, tremor), axonal or demyelinating peripheral neuropathy (sensory and/or motor disturbances), cognitive impairment (dysexecutive syndrome, dementia), sensory impairment (optic, [orpha.net]
People with this form of spastic paraplegia may also have hyperreflexia in the arms, dysarthria, dysphagia, nystagmus, mild hearing loss, scoliosis, foot arch elevation, sensory neuropathy, motor neuropathy and amiotrofia. [ivami.com]
- Dystonia
Both patients had complicated HSP with activity-induced dystonia, suggesting dystonia as an additional finding in SPG56. [ncbi.nlm.nih.gov]
Differential diagnosis Differential diagnosis includes multiple sclerosis, spinal vascular abnormality, vitamin B12 deficiency, HTLVI infection, primary lateral sclerosis, diplegic cerebral palsy, metabolic genetic diseases (dopa-responsive dystonia, [orpha.net]
Dopa responsive dystonia It is characterized by childhood-onset dystonia. It has a dramatic response to administration of low-doses of oral levodopa. [explainmedicine.com]
The Botulinum Toxin (BTx) is a well established treatment for movement disorders such as cervical dystonia, blepharospasm, and arm spastic following stroke. [clinicaltrials.gov]
- 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]
[…] 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]
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]
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
It was a three-treatment crossover study with randomization of the six different sequences of the three-treatments. [frontiersin.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. [brainfacts.org]
As of now, there is no clear cut treatment for Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome but some of the treatments mentioned are found to be useful. [epainassist.com]
Prognosis
Prognosis Prognosis depends on the phenotype (pure/complex form), genotype, and is highly variable due to incomplete penetrance and variable gene expression. [orpha.net]
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 The prognosis for individuals with HSP varies Some individuals are very disabled and others have only mild disability. [ninds.nih.gov]
Differentiation between HSP and PLS is important for genetic counseling of family members and for the patients' prognosis because HSP generally has a more favorable prognosis than PLS. 1 Furthermore, progression to ALS, as may occur in PLS, 24 is not [jamanetwork.com]
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]
Etiology
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]
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]
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]
Epidemiology
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]
Consequently, they are often approached together in epidemiological studies. [karger.com]
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]
Pathophysiology
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]
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]
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. [brainfacts.org]
Stretching Exercises- These exercises are beneficial for increasing range of motion and prevent development of cramps etc. [epainassist.com]
Controls may need to be padded to prevent bruising and scraping if you have spasticity. In addition, a belt around your legs might be considered to prevent contact with controls when experiencing a spasm. [nasdonline.org]
References
- Hess Ch. Non-traumatic acute transverse spinal cord syndromes. [Article in German] Praxis (Bern 1994). 2005;94(30-31):1151-1159.
- Afshinmajd S, Khalaj A, Roohani Y, et al. Acute paraplegia after general anesthesia. Acta Med Iran. 2011;49(8):560-564.
- Räty S, Rantanen K, Sundararajan S, Strbian D. Acute chest pain and paraparesis. Stroke. 2015;46(5):e111-113.
- 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.
- Gornas MA, Mesallamy AAE, Obeid TH, Babiker AE. An adult male with acute paraplegia. Saudi Med J. 2014;35(10):1285-1287.
- 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.
- 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.