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]

• Anemia

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

• Diarrhea

  Constipation may lead to alternating constipation/diarrhea. Constipation is also a known independent risk factor linked to urinary incontinence [ 20 ]. As diarrhea may cause FI, keeping stools solid helps to minimize the risk of FI [ 21 ]. [ojrd.biomedcentral.com]

  Moreover, a number of patients reported gastrointestinal problems, including constipation (14.6%), alternation of constipation and diarrhea (8.0%), fecal incontinence (11.6%), an inability to hold back stools (38.5%), and an at least daily occurrence [emedicine.medscape.com]

  […] hypersensitvity to chenodeoxycholic acid, atorvastatin, resveratrol or to any of their byproducts cholesterol lowering medications other than the study treatment hepatic failure with transaminases >3 times the normal level progressive biliary pathology chronic diarrhea [clinicaltrials.gov]

• Euphoria

  Psychiatric manifestations in HSP were previously described as very rare and only in single reports 11 of unipolar depression, migraine or euphoria. 24 25 Depression was the most common mood disorder associated with HSP in a previous study described as [jnnp.bmj.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]

• Babinski Sign

  Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched [sp-foundationorg.presencehost.net]

  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]

  […] of spastic paraparesis on neurological examination such as Babinski sign or increased tendon reflexes and lower limb hypertone. [slideheaven.com]

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]