• Spastic paraplegia type 4 (also known as SPG4) is the most common of a group of genetic disorders known as hereditary spastic paraplegias. (medlineplus.gov)
  • Spastic paraplegia type 4 is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported. (medlineplus.gov)
  • Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. (medlineplus.gov)
  • Spastic paraplegia type 4 generally affects nerve and muscle function in the lower half of the body only. (medlineplus.gov)
  • The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide. (medlineplus.gov)
  • Mutations in the SPAST gene cause spastic paraplegia type 4. (medlineplus.gov)
  • researchers believe this contributes to the major signs and symptoms of spastic paraplegia type 4. (medlineplus.gov)
  • Rattay TW, Boldt A, Volker M, Wiethoff S, Hengel H, Schule R, Schols L. Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4). (medlineplus.gov)
  • Based on the latest data available there are 1 families with X-LINKED SPASTIC PARAPLEGIA TYPE 16 in Europe. (mendelian.co)
  • X-linked Spastic Paraplegia Type 16 Is also known as spg16. (mendelian.co)
  • Hereditary spastic paraplegia type 4 (SPG4) in Russian patients. (hspersunite.org.au)
  • To characterize the phenotypic variability of spastic paraplegia type 7 in a single family. (mdsabstracts.org)
  • Spastic paraplegia type 7 (SPG7) is an autosomal recessive condition due to mutations in the SPG7 gene which encodes paraplegin with onset from young to late adulthood. (mdsabstracts.org)
  • Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation. (cdc.gov)
  • Meinck HM, Schönle PWA, Conrad B. Effect of cannabinoids on spasticity and ataxia in multiple sclerosis. (angeljustice.org)
  • The Cerebellar Ataxia & Hereditary Spastic Paraplegias Disease Knowledge Page provides reference information on care of cerebellar ataxia and hereditary spastic paraplegias. (ern-rnd.eu)
  • A rare genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness followed by progressive neurological decline that typically includes cerebellar ataxia nystagmus dorsal column dysfunction (decreased vibration and position sense) spastic paraplegia and finally tetraparesis. (globalgenes.org)
  • Newly diagnosed with Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome? (globalgenes.org)
  • Both comprehensive ataxia and spastic paraplegia panels detected a heterozygous pathogenic nonsense variant and a heterozygous missense variant of uncertain significance, previously reported to be pathogenic, in the SPG7 gene [3,4]. (mdsabstracts.org)
  • Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. (cdc.gov)
  • Spastic paraplegia 6 is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies associated with pes cavus and specific hyperreflexia. (wikipedia.org)
  • People with spastic paraplegia 6 generally start showing symptoms during their late teenage years or early adulthood, the symptoms are spasticity affecting the lower limbs, hyperreflexia, high-arched feet (pes cavus), and mild bladder problems. (wikipedia.org)
  • 9 On clinical grounds, spastic paraplegias are characterised by spasticity, hyperreflexia, and progressive lower limb paresis. (bmj.com)
  • Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (lookformedical.com)
  • It is possible for rehabilitation to help people with paraplegia. (bchlaw.com)
  • A 2021 Swiss study found that people with paraplegia were more likely to have shoulder pain if they pushed their chairs with short, jerkier movements. (sci-can.ca)
  • Consider participating in a clinical trial so clinicians and scientists can learn more about spasticity and related disorders. (nih.gov)
  • Spastic paraplegia 11 (SPG11) should be suspected in individuals with the following clinical and imaging findings. (nih.gov)
  • Clinical features of hereditary spastic paraplegia due to spastin mutation. (medlineplus.gov)
  • Thus, management of spasticity and facilitation of motor recovery remain clinical challenges. (frontiersin.org)
  • Aydin G, Tomruk S, Keles I, Demir S, Orkun S. Transcutaneous electrical nerve stimulation versus baclofen in spasticity: clinical and electrophysiologic comparison. (scireproject.com)
  • AIM: To investigate molecular, clinical and genealogical characteristics of SPG4 in a first representative Russian group, to estimate SPG4 proportion among all DNA-diagnosed spastic paraplegias. (hspersunite.org.au)
  • MATERIAL AND METHODS: Fifty unrelated Russian families with SPG4 detected in the course of clinical and molecular studies of spastic paraplegias were studied. (hspersunite.org.au)
  • Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of monogenic disorders in which the main clinical feature is progressive lower limb spasticity. (hsp-info.de)
  • In terms of clinical manifestations, in addition to spastic paraplegia, three adrenomyeloneuropathy probands also had adrenocortical insufficiency, two Alexander disease probands developed urinary retention, one CTX proband developed cataracts and chronic diarrhea and the other presented with chronic diarrhea and mild tendon xanthomatosis. (dovepress.com)
  • Several reports have shown that various late-onset leukodystrophies, such as X-linked adrenoleukodystrophy (ALD) and Krabbe disease (KD), may present as spastic paraplegia (SP) without leukodystrophy on neuroimaging and be easily misdiagnosed as hereditary spastic paraplegia (HSP) on clinical grounds. (dovepress.com)
  • A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. (mdsabstracts.org)
  • Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. (cdc.gov)
  • Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of diseases involving weakness and spasticity of the lower extremities combined with additional neurological or non-neurological manifestations ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
  • however, only the 2 subtypes involving mutations of SPG11 and SPG15 are associated with Kjellin's syndrome ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
  • Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. (lookformedical.com)
  • In the past, HSP was also classified as type I or type II, based on the patient's age at the onset of symptoms and on the amount of spasticity versus weakness. (medscape.com)
  • Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. (nih.gov)
  • There is currently no treatment for hereditary spastic paraplegia (HSP), a set of genetic illnesses whose symptoms include muscle weakness and stiffness, and in some cases cognitive impairments. (news-medical.net)
  • Hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders characterized by progressive lower limb weakness and spasticity as core symptoms of the degeneration of the corticospinal motor neurons. (hspersunite.org.au)
  • That's why it is important that others are aware of the signs and symptoms for spasticity and bone deformation so that they can take simple steps to correct the issue. (theoxfordcenter.com)
  • Keep in mind that spasticity has a range of severity and someone with spasticity may not have all of these symptoms. (theoxfordcenter.com)
  • Individuals with these conditions are much more likely to encounter symptoms of spasticity. (theoxfordcenter.com)
  • Spasticity symptoms can be very painful, disabling, and disfiguring. (theoxfordcenter.com)
  • By familiarizing yourself with the signs and symptoms associated with spasticity, individuals and their loved ones can take proactive steps to seek early intervention. (theoxfordcenter.com)
  • Cannabinoids for treatment of spasticity and other symptoms related to multiple sclerosis (CAMS study): multicentre randomised placebo-controlled trial. (angeljustice.org)
  • Wade DT, Makela PM, House H, Bateman C, Robson P. Long-term use of a cannabis-based medicine in the treatment of spasticity and other symptoms in multiple sclerosis. (angeljustice.org)
  • Collin C, Ambler Z, Kent R, McCalla R. A randomised controlled study of Sativex® in patients with symptoms of spasticity due to multiple sclerosis. (angeljustice.org)
  • Patients with late-onset spastic paraplegia should be screened for underlying leukodystrophies, irrespective of the presence of additional complicating symptoms and neuroimaging abnormalities. (dovepress.com)
  • Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)
  • Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. (biomedcentral.com)
  • Hereditary spastic paraplegias (HSPs) encompass a group of neurodegenerative disorders with lower limb spasticity due to degeneration of the corticospinal tract as most prominent sign. (biomedcentral.com)
  • INTRODUCTION: Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by progressive spasticity and weakness of the lower limbs. (bvsalud.org)
  • Kjellin syndrome is characterized by retinal degeneration, autosomal recessive hereditary spastic paraplegia, and thin corpus callosum initially associated with spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. (nih.gov)
  • moreover, no genetic linkage between spinal disc herniation and spastic paraplegia has ever been described. (bmj.com)
  • As far as upper spinal disc herniations and related paraplegia are concerned, similar genetic studies have not yet been reported, in spite of considerable information collected about hereditary spastic paraplegia (HSP). (bmj.com)
  • First among the featured riders, Rebecca Hart was born with a rare genetic disease called Familial Spastic Paraplegia (FSP). (equisearch.com)
  • 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (nih.gov)
  • We performed genetic analysis using a custom-designed gene panel for leukodystrophies in 112 hereditary spastic paraplegia-like patients. (dovepress.com)
  • Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. (nih.gov)
  • Neurological examination revealed dysarthria, frontal release signs, preserved perception of touch and pain, spasticity of the lower limbs with a scissors gait, and loss of strength and muscle atrophy in the lower limbs and interosseous muscles of the hands. (scielo.br)
  • demonstrate through studies on induced pluripotent stem cell-derived cortical neurons that miR-33a is a potential therapeutic target for the treatment of SPG4-related hereditary spastic paraplegia. (portlandpress.com)
  • We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein. (hspersunite.org.au)
  • Clinically and genetically heterogeneous hereditary spastic paraplegia (HSP) is a group of disorders in which primary symptom is insidiously progressive spasticity (rigid muscles) and weakness of the lower limbs. (preventiongenetics.com)
  • The inheritance of Kjellin's syndrome is autosomal recessive, and the syndrome is characterized by spastic paraplegia, mental retardation, amyotrophy, thin corpus callosum, and macular dystrophy ( 2 2 Webb S, Patterson V, Hutchinson M. Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia. (scielo.br)
  • A man with T-10 complete paraplegia agreed to have his commercially available standing wheelchair instrumented with a custom-designed logging device for a 2-year period. (easystand.com)
  • The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. (nih.gov)
  • There was no significant influence for the physical activity level or the degree of spasticity on bone mineral density in all subjects with SCI. (easystand.com)
  • Causes of spasticity vary but are typically related to damaged nerves in the central nervous system which control voluntary movement. (pain-relief-centers.com)
  • But those with certain conditions may be more at risk of suffering side effects that cause spasticity. (theoxfordcenter.com)
  • Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. (nih.gov)
  • These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. (medlineplus.gov)
  • Spasticity is a condition that includes abnormal muscle tone and/or stiffness in a child or adult. (theoxfordcenter.com)
  • Selective dorsal rhizotomy (SDR): Used to treat severe spasticity in the legs, this operation removes specific nerve roots to decrease muscle stiffness. (pain-relief-centers.com)
  • Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. (cdc.gov)
  • It is characterized by progressive bilateral leg weakness, spasticity, and neuropathy. (mdsabstracts.org)
  • As an adult, it primarily affects her muscles and joints from the waist down, causing partial paralysis and severe spasticity. (equisearch.com)
  • it is a group of clinically and genetically diverse disorders that share a primary feature, which is the causation of progressive and generally severe lower extremity weakness and spasticity. (medscape.com)
  • A family with consanguineous parents and four of eight sibs affected by multiple disc herniations and spastic paraplegia was clinically and genetically analysed. (bmj.com)
  • Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. (mendelian.co)
  • Hereditary spastic paraplegias are a genetically heterogeneous group of neurological disorders. (hspersunite.org.au)
  • In a patient with Holmes-Adie syndrome, and in another with tabes dorsalis, a transverse cord lesion resulted in a severe, but flaccid paraplegia with absent tendon reflexes. (bmj.com)
  • Clinically, poststroke spasticity is easily recognized as a phenomenon of velocity-dependent increase in tonic stretch reflexes ("muscle tone") with exaggerated tendon jerks, resulting from hyperexcitability of the stretch reflex ( 3 ). (frontiersin.org)
  • AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. (nih.gov)
  • botulin toxin and intrathecal baclofen for severe and disabling spasticity when oral drugs are ineffective. (nih.gov)
  • Abel N & Smith R. Intrathecal baclofen for treatment of intractable spinal spasticity. (scireproject.com)
  • Avellino A & Loeser J. Intrathecal baclofen for the treatment of intractable spasticity of spine or brain etiology. (scireproject.com)
  • Azouvi P, Mane M, Thiebaut J, Denys P, Remy-Neris O, Bussel B. Intrathecal baclofen administration for control of severe spinal spasticity: functional improvement and long-term follow-up. (scireproject.com)
  • The cost of Intrathecal Baclofen Pump surgery for Spasticity in India is USD 16,000 - USD 17,000. (lyfboat.com)
  • Spasticity affects more than 12 million people around the world, and is a condition that causes certain muscles in the body to contract. (bchlaw.com)
  • Medically, Spasticity is a motor disorder in which specific muscles are unceasingly contracted. (lyfboat.com)
  • Spasticity affects negatively muscles and joints of the extremities and is particularly harmful in the case of growing children. (lyfboat.com)
  • Spasticity can distress muscles in any part of the body but is most common in leg muscles. (lyfboat.com)
  • Various exercises as well as performing daily stretches can help to lengthen the muscles to reduce the likelihood of spasticity. (pain-relief-centers.com)
  • The neurologic examination demonstrated an intense pyramidal spasticity in the lower limbs and moderate weakness (Medical Research Council grade 3) of the proximal muscles. (cdc.gov)
  • Flexor spasms were severe in both patients, but spasticity was absent. (bmj.com)
  • Albert T, Yelnik A, Bonan I, Lebreton F, Bussel B. Effectiveness of femoral nerve selective block in patients with spasticity: preliminary results. (scireproject.com)
  • A randomized, double-blind, placebo-controlled study of the efficacy and safety of botulinum toxin type A in upper limb spasticity in patients with stroke. (scireproject.com)
  • If that injury was sustained at the fault of another, patients diagnosed with paraplegia may have legal recourse to recover financial compensation. (bchlaw.com)
  • Patients present lower limb weakness and spasticity, complicated in complex forms by additional neurological signs. (hspersunite.org.au)
  • Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. (lookformedical.com)
  • Consequently, it's difficult for clinicians to explain it to the patients or the families, especially when spasticity is not the only thing the patient is dealing with. (lyfboat.com)
  • The patients and their families should focus on spasticity. (lyfboat.com)
  • The objective of this study was to investigate the frequency of late-onset leukodystrophies in patients with spastic paraplegia. (dovepress.com)
  • Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands. (cdc.gov)
  • Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. (cdc.gov)
  • The pure types generally involve only spasticity of the lower limbs and walking difficulties. (medlineplus.gov)
  • Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. (scielo.br)
  • Intraspinal grafting of HSSC led to a progressive and significant improvement in lower extremity paw placement, amelioration of spasticity, and normalization in thermal and tactile pain/escape thresholds at eight weeks post-grafting. (biomedcentral.com)
  • Early-onset hypotonia evolves into progressive lower-extremity spasticity. (nih.gov)
  • Alternative to traditional medication, BOTOX® injections are FDA-approved to treat upper and lower limb spasticity and is often more successful than oral medication. (pain-relief-centers.com)
  • Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. (bvsalud.org)
  • The spasticity can cause chronic pain, joint deformities, chronic constipation and pressure-associated sores, etc. (wikipedia.org)
  • Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful. (medscape.com)
  • Aggressive and appropriate spasticity management with botulinum toxin therapy is an example of how to create a transient plastic state of the neuromotor system that allows motor re-learning and recovery in chronic stages. (frontiersin.org)
  • These cases involving DDHD2 disruption feature cognitive defects as well as spasticity and muscle wasting, so they're among the more devastating forms of this illness,' said Cravatt. (news-medical.net)
  • The presence of spasticity was measured by gastrocnemius muscle resistance and electromyography response during computer-controlled ankle rotation. (biomedcentral.com)
  • The Igenomix Hereditary Spastic Paraplegia Precision Panel can serve as a n accurate and directed diagnostic tool as well as a differential diagnosis of muscle weakness ultimately leading to a better management and prognosis of the disease. (igenomix.it)
  • In a nutshell, Spasticity can be explained as abnormal muscle tightness because of prolonged muscle contraction. (lyfboat.com)
  • Spasticity is a condition which causes continuous muscle contraction. (pain-relief-centers.com)
  • Muscle spasticity can affect your ability to move and otherwise function unless properly treated. (pain-relief-centers.com)
  • To schedule a consultation with a healthcare practitioner in Sherman Oaks who specializes in muscle spasticity treatment , call (424) 365-1800 or contact Dr. Jeremy Fischer online . (pain-relief-centers.com)
  • Being able to stand and walk can help relieve or even avoid serious health issues caused by prolonged sitting, including muscular atrophy, loss of bone density, skin breakdown, urinary tract infections, muscle spasticity, digestive issues, and poor circulation as well as reduced respiratory and cardiovascular capacity. (oandp.com)
  • If left unaddressed, spasticity can lead to permanent complications that include pain, frozen joints, and bone deformation. (theoxfordcenter.com)
  • Spasticity can cause a loss of range of motion in your joints. (lyfboat.com)
  • Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature. (cdc.gov)
  • Spastic quadriplegia-52 (SPG52) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al. (nih.gov)
  • Spasticity and weakness (spastic paresis) are the primary motor impairments after stroke and impose significant challenges for treatment and patient care. (frontiersin.org)
  • Spasticity and motor recovery are both related to neural plasticity after stroke. (frontiersin.org)
  • Spasticity is present in about 20-40% stroke survivors ( 2 ). (frontiersin.org)
  • In particular, reticulospinal (RS) hyperexcitability resulted from loss of balanced inhibitory, and excitatory descending RS projections after stroke is the most plausible mechanism for poststroke spasticity ( 19 ). (frontiersin.org)
  • The relation between spasticity and motor recovery and the role of plastic changes after stroke in this relation, particularly RS hyperexcitability, remain poorly understood among clinicians and researchers. (frontiersin.org)
  • For persons with paraplegia, stroke, and other neuromuscular conditions, advances in robotics and neuroscience have created new possibilities for regaining function. (oandp.com)