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]

• Epilepsy

  Sometimes, mania and epilepsy together can occur and are believed to be having a common underlying neurobiology, like kindling paradigm and changes in second-messenger systems. [14] But, the prevalence of true manic depressive illness in epilepsy has [ruralneuropractice.com]

  Additional neurological features such as epilepsy, peripheral neuropathy, or cerebellar signs may be present (complicated HSP). Diagnosis is mainly clinical. MRI of the spinal cord may demonstrate spinal cord atrophy. [amboss.com]

  Clinically, HSP can be classified as “complicated” or “complex” if the patient presents with other neurological and systemic features in addition to HSP, such as ataxia, dystonia, intellectual disability, dementia, optic atrophy, retinitis pigmentosa, epilepsy [dnatesting.uchicago.edu]

  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]

• Muscle Weakness

  In early onset cases spasticity is typically more prominent than muscle weakness, and motor delays may be observed (3). [dnatesting.uchicago.edu]

  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]

• Muscular Atrophy

  […] epilepsy, muscular atrophy, deafness, ichthyosis, and short stature. [dnatesting.uchicago.edu]

  Mutations in BICD2 cause a complex neurological phenotype consisting of major features of congenital spinal muscular atrophy and hereditary spastic paraplegia 8. [centogene.com]

  […] corpus callosum is characterized by normal motor development, slowly progressive spastic paraparesis, and dementia developing from the early second decade along with various complicated symptoms such as spastic tetraplegia, muscular atrophy, extrapyramidal [neurologyindia.com]

  SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity. Am J Med Genet. 1997 ; 72 : 51 – 8. 80. Scriver, CR. Human genetics: lessons from Quebec populations. [cambridge.org]

  Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Multiple sclerosis Myasthenia gravis Spinal muscular atrophy Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. [icdlist.com]

• Leg Weakness

  In pure forms of HSP, spastic leg weakness is often accompanied by posterior column abnormalities and bladder bowel dysfunction. [austinpublishinggroup.com]

  The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis. [rarediseases.org]

• Cerebellar Sign

  Additional neurological features such as epilepsy, peripheral neuropathy, or cerebellar signs may be present (complicated HSP). Diagnosis is mainly clinical. MRI of the spinal cord may demonstrate spinal cord atrophy. [amboss.com]

  Clinically, they are classified as “pure” when spastic paraplegia exists in isolation and as “complicated” when other major clinical features such as mental retardation, optic atrophy, retinopathy, ichthyosis, ataxia, deafness, cerebellar signs, muscle [neurologyindia.com]

  There were no cranial nerve deficits, cerebellar signs and signs of meningeal irritation. [ruralneuropractice.com]

  signs, muscle wasting, epilepsy, and ichthyosis are present. [ijri.org]

  Besides these core defining clinical signs, some forms called “complicated” are associated with other signs such as cerebellar ataxia, peripheral neuropathy, cognitive impairment, epilepsy, retinopathy, extrapyramidal manifestations, abnormalities on [journals.plos.org]

• Paresis

  The first hypothesis was cerebral paresis with periventicular leukomalacia, although later rejected when neuroradiology was found normal. The family history of the girl was at the beginning unclear. [omicsonline.org]

  How to clinically assess and treat muscle overactivity in spastic paresis. J Rehabil Med 2010; 42: 801–807. 6. Abbruzzese G, Berardelli A. Neurophysiological effects of botulinum toxin type A. Neurotox Res 2006; 9: 109–114. 7. [medicaljournals.se]

  Keratoderma with mental retardation and spastic paraplegia Macular corneal dystrophy Paresis of lower extremity Parkinsonism due to hereditary spastic paraplegia Paroxysmal choreoathetosis Paroxysmal dystonia Paroxysmal dystonic choreoathetosis with [icdlist.com]

  Antiparetic and antispastic effects induced by tizanidine in patients with spastic paresis. Journal of the Neurological Sciences. 1982;53(2):187-204. ^ Bes A, Eyssette M, Pierrot-Deseilligny E, Rohmer F, Warter JM. [en.wikipedia.org]

  Some patients Distal Hands & Feet Fasciculations Sensation: Normal or Reduced (Panmodal; Posterior column) Bladder: Often normal Progression Over few years or Slow Often still walking after 2 decades EOM: Saccadic pursuit; Dysmetric saccades; Upgaze paresis [neuromuscular.wustl.edu]

• Limb Weakness

  Their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity). The remaining 10% have a complicated or complex form of the condition. [nhs.uk]

  The uncomplicated or pure form presents with lower limb weakness and spasticity, and is predominantly characterized by an autosomal dominant inheritance pattern. [mayomedicallaboratories.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]

• Myelopathy

  In severe form of Cervical Myelopathy causes muscle weakness in all 4 limbs with sensory disturbances.Pathological reflexes are also present. Hoffmann's sign and Babinski's sign also can be seen. [explainmedicine.com]

  TSP is also known as HTLV-1 associated myelopathy (HAM). [healthline.com]

  Hereditary and metabolic myelopathies. Handb Clin Neurol. 2016; 136 :769–85. [ PubMed : 27430441 ] Hedera P. Recurrent de novo c.316G>A mutation in NIPA1 hotspot. [ncbi.nlm.nih.gov]

• 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]

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]