Spastic paraplegia type 7 can often present with ataxia. 1 However, symptom onset in most of these cases is in the mid- to late-30s, which is later than symptom onset in the presented patient. 2 Clinical features, such as proximal weakness leading to [jamanetwork.com]

[…] half of the patients presenting missense mutations. [jnnp.bmj.com]

Background: A 31 year old male presented with ten years of progressive walking difficulties, stiffness in his arms and legs, and distal paresthesias. [n.neurology.org]

HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis. [journals.lww.com]

Seizures may be present. Death usually occurs within the first decade of life. [ulf.org]

• Weakness

  Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). [rarediseases.org]

  This means they have other symptoms in addition to the muscle weakness and spasticity. They may have a wide range of symptoms. [nhs.uk]

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [malacards.org]

  An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. [icdlist.com]

  […] spasticity and weakness. [sp-foundationorg.presencehost.net]

• Epilepsy

  In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. [1] [2] The different forms of HSP are caused by mutations in different genes. Inheritance varies. [rarediseases.info.nih.gov]

  For example, a person with pure HSP may have peripheral neuropathy caused by diabetes, or he or she may have unrelated epilepsy. Additional symptoms The classic symptom of HSP is progressive difficulty in walking, but the severity varies. [emedicine.medscape.com]

  KIF5A is expressed in all neurons, which may lead to its variety of presentations including axonal neuropathy, optic neuropathy, epilepsy, and ataxia. [n.neurology.org]

  Epilepsy, ataxia, optic neuropathy, retinopathy, dementia, ichthyosis, mental retardation, deafness, and problems with speech, swallowing. Physical Signs Upper extremity muscle tone and strength are normal. 35. [slideshare.net]

  […] members in a pedigree, the association could have been coincidental, given the high prevalence of epilepsy in the community. [jnnp.bmj.com]

• Wheelchair Bound

  Most patients became wheelchair bound after a disease duration of 1 to 2 decades. End-stage disease consisted of loss of spontaneous speech, severe dysphagia, spastic tetraplegia with peripheral nerve involvement and contractures. [rug.nl]

  More than a third showed low global disease severity, mostly determined by mild motor signs, and only 12 % of patients were wheelchair-bound. [slideheaven.com]

  She became wheelchair bound from the age of 43 years. Examination at the age of 63 years showed severe cerebellar ataxia in truncus and extremities. [journals.plos.org]

  […] and falls have been mapped insufficiently, but clinical experience shows that these may seriously impact on daily life, as they result in fall-related injuries, fear of falling, reduced mobility (approximately 10% of the patients with pure HSP become wheelchair-bound [medicaljournals.se]

  A characteristic feature of HSP, which has been stressed by several authors, is the marked discrepancy between the often severe spasticity and only mild or absent muscle weakness. 8 14 This is demonstrated by the patient with HSP who is wheelchair bound [jnnp.bmj.com]

• Pallor

  Histopathologically, the CNS showed widespread myelin pallor in the white matter. By contrast, the gray matter and peripheral nerves were well preserved. [ncbi.nlm.nih.gov]

  There is diffuse myelin pallor of crossed and uncrossed corticospinal tracts. In addition, the gracile fasciculi in the centre of the dorsal columns show prominent myelin pallor. Anterior horn cells are normal in number and morphology. [jnnp.bmj.com]

• Nausea

  Some of the symptoms of UTI are cloudy, smelly urine, fever, chills, nausea, headache, increased spasms and autonomic dysreflexia (AD). One may also feel burning while urinating, and/or discomfort in the lower pelvic area, abdomen or lower back. [christopherreeve.org]

  Within the HSP sample women reported more nausea, bloating and alternating constipation and diarrhea than men. There was no difference in reported frequency of symptoms between patients with pure and complex HSP. See Table 1. [ojrd.biomedcentral.com]

  The use of oral spasmolytic drugs is usually not effective to obtain focal results in specific muscles (50) and carries the risk of systemic side-effects, such as nausea, drowsiness, loss of (leg) muscle strength, and dizziness. [medicaljournals.se]

• Muscle Rigidity

  The symptoms of HSP can include the following: Abnormal gait Delayed walking Repeated tripping or falling Weakness of the leg muscles Rigidity and increased tone of the person's leg muscles People with uncomplicated HSP can also experience additional [disabled-world.com]

• Vomiting

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

• Muscle Weakness

  Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. [icdlist.com]

  This means they have other symptoms in addition to the muscle weakness and spasticity. They may have a wide range of symptoms. [nhs.uk]

  Type II was defined as having late onset (older than 35 years), with rapidly developing symptoms and muscle weakness that was more prominent than spasticity. [medlink.com]

  Weakness is most notable at the iliopsoas muscles, the tibialis anterior muscles, and, to a lesser extent, the hamstring muscles. Muscle wasting may occur in patients with pure HSP. 37. [slideshare.net]

  The third intrinsic risk factor for balance impairments and falls in HSP is muscle weakness. [medicaljournals.se]

• Muscular Atrophy

  atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21 Amyotrophic lateral sclerosis G12.22 Progressive bulbar palsy G12.23 Primary [icd10data.com]

  Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Muscular dystrophy Myasthenia gravis Spinal muscular atrophy There can be different causes for these diseases. [medlineplus.gov]

  Atrophy with Pyramidal Features, Autosomal Dominant Charcot Marie Tooth Disease with Pyramidal Features. [xpertdox.com]

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

  In severe cases, the neonatal hypotonia may resemble spinal muscular atrophy but over 90% of cases develop spasticity, although possibly not until the second year of life. [patient.info]

• Spastic Paraplegia

  PLP1 partial deletion is a rare cause of spastic paraplegia type 2 and exhibits X-linked dominant inheritance with variable expressivity. [ncbi.nlm.nih.gov]

  Genetics Home Reference : 25 Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. [malacards.org]

  […] analysis of L1CAM and PLP1 genes) Hereditary spastic paraplegia, AR and X-linked (NGS panel for 33 genes) - Plus [cgcgenetics.com]

• Spastic Gait

  There are a number of references which give descriptions of a spastic gait - here's part of one I like: When a person has a spastic gait, his legs are typically weak and abnormally stiff. [hspjourney.blogspot.com]

  The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia type 2 to a severely disabling form of Pelizaeus-Merzbacher disease featuring [ncbi.nlm.nih.gov]

  gait and autonomic dysfunction. [malacards.org]

  Abstract Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is either the only feature or is a major syndrome feature. There are more than 70 genetic types of HSP. [thieme-connect.com]

  Orpha Number: 99015 Disease definition Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. [rarediseases.info.nih.gov]

• Lower Extremity Spasticity

  Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. [connects.catalyst.harvard.edu]

  […] by progressive lower extremity spasticity and weakness. [n.neurology.org]

  The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {13:Fink et al. (1996)} and {14:Fink (1997)}. [diseaseinfosearch.org]

  spasticity of the lower limbs. [malacards.org]

  […] characterized by progressive, usually severe, lower extremity spasticity and weakness. [flybase.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]

  SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy. [malacards.org]

  There is gross spasticity, hyperreflexia and extensor plantar response. In severe cases, the child is unable to sit unsupported and is certainly unable to walk. [patient.info]

  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]

  Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

• Cerebellar Sign

  MalaCards based summary : Spastic Paraplegia 2, X-Linked, also known as spastic paraplegia 2, is related to pelizaeus-merzbacher disease and paraplegia, and has symptoms including ataxia and cerebellar signs. [malacards.org]

  signs - - - Ophthalmolo-gical signs Latent convergent Squint improved following correction glasses, optic disk normal Hyper-metrope, no squint, normal optic disk Squint, glaucoma, or primary optic atrophy, each sign was reported once in a patient Brain [bmcmedgenet.biomedcentral.com]

  A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

  There were subtle cerebellar signs in the upper limbs and mild cerebellar dysarthria. Ophthalmological examination showed normal retinal and macular findings, but visual acuity was 0.3–0.5. [journals.plos.org]

High-arched feet (pescavus) are generally present and are usually prominent in older patients. workup Genetic Testing 43. Imaging Studies MRI scans may demonstrate atrophy of the spinal cord. [slideshare.net]

Methods: This paper reviews the pathophysiology, diagnostic workup, and management of balance impairments in hereditary spastic paraplegia. [medicaljournals.se]

Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present. [journals.plos.org]

[…] for each treatment [ Time Frame: 2 months ] 27-hydroxycholesterol will be measured on fasten blood samples for the 12 patients included before and after the 2-month treatment period for each treatment Secondary Outcome Measures : Modification of the [clinicaltrials.gov]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

If you’re seeking treatment for paralysis, ask your doctor for more information about your specific diagnosis, treatment plan, and long-term outlook. [healthline.com]

What is the treatment for PMD and SPG2? There is no treatment for PMD or SPG2; treatment is currently symptomatic and supportive. [ulf.org]

Treatment Treatment Options: Mobility devices and physical therapy can be helpful, especially in younger individuals. References Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. [disorders.eyes.arizona.edu]

AB - Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. [rug.nl]

SPG2 - these patients tend to have a normal lifespan. [ 6 ] There may appear to be periods of stability but the prognosis is for gradual deterioration. [patient.info]

Prognosis Pure SPG2 patients show a normal life expectancy. [rarediseases.info.nih.gov]

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]

Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [en.wikipedia.org]

Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]

Pure SPG2 manifests as early as infancy or early childhood ( Etiology SPG2 is due to missense substitutions affecting the PLP1 gene. [rarediseases.info.nih.gov]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues. [journals.plos.org]

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

Pugliatti M, Rosati G, Carton H et al (2006) The epidemiology of multiple sclerosis in Europe. Eur J Neurol 13:700–722 20. [slideheaven.com]

A community-based epidemiological survey of female urinary incontinence: the Norwegian EPINCONT study. Epidemiology of incontinence in the county of Nord-Trondelag. J Clin Epidemiol. 2000;53(11):1150–7. [ojrd.biomedcentral.com]

Epidemiology The prevalence and incidence of SPG2 have not been reported, but as part of the Pelizaeus-Merzbacher (PMD; see this term) spectrum, SPG2 roughly accounts for about 20 % of cases. There have been approximately 20 cases published on SPG2. [rarediseases.info.nih.gov]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.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]

Methods: This paper reviews the pathophysiology, diagnostic workup, and management of balance impairments in hereditary spastic paraplegia. [medicaljournals.se]

Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis. [en.wikipedia.org]

[…] and Neurosurgery, London, UK 3 Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Republic of Moldova 4 Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy 5 Department of Pathophysiology [jnnp.bmj.com]

Epidemiology, pathophysiology, and classification of fecal incontinence: state of the science summary for the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) workshop. Am J Gastroenterol. 2015;110(1):127–36. [ojrd.biomedcentral.com]

Preventing infections The key to preventing UTI is to halt the spread of bacteria into the bladder. Meticulous hygiene and proper handling of urinary care supplies can help prevent infection. [christopherreeve.org]

The findings, scientists say, could have important implications for the prevention and treatment of these kinds of metabolic diseases in humans. [elbiruniblogspotcom.blogspot.com]

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]

[…] foot drop, pronation -control knee -increases ability to walk and do things without support of other people Physical Activity does what for people with CP 1. controls weight, improves chances of living longer, and helps prevent osteoporosis 2. sports [quizlet.com]

There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy. [2] [3] Last updated: 4/24/2016 [rarediseases.info.nih.gov]