Abstract X-linked hereditary spastic paraplegias (HSP) present with two distinct phenotypes, pure and complicated. [ncbi.nlm.nih.gov]

HSP can be classified as pure or uncomplicated if no additional findings are present (2). Age of onset of HSP can range from early childhood to late adulthood. [dnatesting.uchicago.edu]

However no such finding was noted in the present study. [ijri.org]

• Spastic Paralysis

  Reid Published 2014 in Journal of Neurology DOI: 10.1007/s00415-014-7598-y The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. [pdfs.semanticscholar.org]

  Salient Features 1-6 Pure HSP : Slowly progressive, bilaterally symmetrical lower limb spastic paralysis Features of corticospinal tract degeneration - spasticity, increased tone, hyper-reflexia, clonus. Muscle power is relatively spared. [genetics4medics.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]

  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]

  Lesca G, Eymard‐Pierre E and Santorelli FM (2003) Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 60(4): 674–682. [els.net]

• Paresthesia

  C6 deficit icauses decreased bracialradialis reflex, weakness of the biceps muscle, and pain and/or paresthesias radiating down the arm to the thumb and index finger where as C7 root involvement causes loss of the triceps reflex, pain and/or paresthesias [explainmedicine.com]

  Symptoms include: gradual weakening and stiffening of the legs back pain that may radiate down the legs paresthesia, or burning or prickling feelings urinary or bowel function problems erectile dysfunction inflammatory skin conditions, such as dermatitis [healthline.com]

  Eighteen months after this diagnosis, the patient was readmitted following ascending paresthesia of all limbs, and increasing muscle weakness of the lower limbs. Both upper and lower limbs showed flaccid weakness. [cags.org.ae]

  Other common symptoms include urinary urgency and frequency, hyperactive tendon reflexes, diminished vibration and position sense in the feet, leg paresthesias, muscle spasms, cramps, and pain. Muscles can atrophy at a late stage. [encyclopedia.com]

  Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [10] Individuals with HSP can experience extreme fatigue associated with central nervous system [en.wikipedia.org]

• Tingling

  Patient had no bladder bowel abnormality, tingling numbness, self mutilating behaviour or any other abnormal movement except the dystonia of right foot as described before. Past history was uneventful. [austinpublishinggroup.com]

  People with this form of spastic paraplegia can also experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes [icdlist.com]

• Slurred Speech

  In rare instances, HSP also impacts the upper regions of the spinal cord and the brainstem, causing weakness and spasticity in arm muscles, slurred speech, difficulty swallowing and a range of other complications. 1-3 Many Subtypes There are roughly 30 [raredr.com]

• Speech Disorder

  disorder Strength: Mildly reduced in legs Gait: 60% never walk Mental retardation: Severe; Little speech Eye: Optic atrophy; Oculomotor apraxia Sensory: Normal Skeletal: Microcephaly; Short stature Course: Non-progressive Laboratory Skin vessels: Osmophilic [neuromuscular.wustl.edu]

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]

Treatment of chronic limb spasticity with botulinum toxin A. J Neurol Neurosurg Psychiatry 1995; 58: 232–235. 13. Giovannelli M, Borriello G, Castri P, Prosperini L, Pozzilli C. [medicaljournals.se]

A multidisciplinary treatment regime is used to manage symptoms. There are three main treatment types: physiotherapy/exercise, electrical muscle stimulation and prescription medication. [contact.org.uk]

As new HSP therapies emerge, genetic advancement may further contribute to improved outcomes by allowing clinicians to better personalize treatment, tailoring therapy to the individual genetic profile of each patient. 1 Diagnosing Hereditary Spastic Paraplegia [raredr.com]

REHABILITATION MANAGEMENT AND TREATMENTS Available or current treatment guidelines There is no available treatment to slow or reverse the disease process. [now.aapmr.org]

Determining the molecular basis of disease using genetic testing can be useful in predicting prognosis and disease course, and can aid in identification of at-risk family members. [dnatesting.uchicago.edu]

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]

Professional Issues The limitations in the ability to predict prognosis and variability in disease onset and progression should be kept in mind when providing counseling to patients and families with HSP. 3. [now.aapmr.org]

Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such [amboss.com]

Hereditary Spastic Paraplegia Etiology HSP is a highly genetically heterogeneous group of disorders (4). 70-80% of HSP is inherited in an autosomal dominant manner, and the majority of dominant HSP is classified as uncomplicated or pure HSP (2). [dnatesting.uchicago.edu]

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]

Etiology The genetics of HSP are complex and heterogeneous. Over fifty spastic paraplegia gene (SPG) genetic loci have been identified to date. The mode of inheritance for HSP can be autosomal dominant, recessive, or X-linked. [now.aapmr.org]

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]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J. Hum. Genet. 59, 163–172 (2014). 17. Beetz, C., Nygren, A. [nature.com]

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol. 1993 ; 10 : 17 – 25. 27. Hara, K, Onodera, O, Endo, M, Kondo, H, Shiota, H, Miki, K, et al. [cambridge.org]

Epidemiology including risk factors and primary prevention The prevalence of HSP is estimated to be at 3 to 10 cases per 100,000. The onset of the disease process begins anywhere from early childhood to 70 years of age. [now.aapmr.org]

Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such [amboss.com]

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]

A role for white matter abnormalities in the pathophysiology of bipolar disorder. Neurosci Biobehav Rev 2010;34:533-54. [ PUBMED ] [ FULLTEXT ] 14. Mazza M, Di Nicola M, Marca GD, Janiri L, Bria P, Mazza S. [ruralneuropractice.com]

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]

Author information 1 Institute of Cardiovascular Disease, General Hospital of Jinan Military Region, 8 Lashan Road, Jinan 250022, China. 2 Division of Quality Management, Shandong Center for Disease Control and Prevention, 16992 Jingshi Road, Jinan 250014 [ncbi.nlm.nih.gov]

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]

CARIS helps scientists identify more effective ways of treating and preventing rare conditions, such as ichthyosis. You can opt out of the register at any time. [nhsdirect.wales.nhs.uk]

A regularly followed exercise regimen should incorporate daily or twice daily stretching and daily exercises to promote improved endurance and activity tolerance and to prevent deconditioning. [now.aapmr.org]

TREATMENT Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with HSP. [slideshare.net]