Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments [books.google.de]

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]

ORPHA:320365 Synonym(s): SPG36 Prevalence: Inheritance: Autosomal dominant Age of onset: Adolescent, Adult ICD-10: G11.4 OMIM: 613096 UMLS: C2936879 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes [orpha.net]

Asymptomatic patients are also present. [emedicine.medscape.com]

• Hypotension

  […] sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag CSF Intracranial hypertension Hydrocephalus / NPH Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension [maria-online.com]

• Leg Weakness

  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]

  One clinical study reported that the mean age at first onset of muscle weakness was 41 years and that the most common presenting symptom was muscle cramps, followed by tremors and leg weakness. [31] Also reported was that muscle strength and function [emedicine.medscape.com]

• Urinary Urgency

  urgency List of possible causes of Urinary urgency or similar symptoms may include: 2 Acute bacterial prostatitis (urinary urgency) Anuria (Urinary urgency) Ataxia, spastic, type 3, autosomal recessive (Urinary urgency) Ataxia (urinary urgency) Autosomal [familydiagnosis.com]

  Bowel urgency is less common but may occur. Medications such as oxybutynin may reduce urinary urgency. If urinary urgency is severe or accompanied by difficulty initiating urination, consultation with a urologist is recommended. [rarediseases.org]

  urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. [orpha.net]

  + + - - Bladder Control Urinary urgency normal Urinary urgency normal normal Pes cavus + + +++ + ++ Ulcerations on legs ++ no no no no Outcome Bedridden Ambulatory Wheelchair Ambulatory Ambulatory At examination (Table 1 ), a single patient had mild developmental [bmcneurol.biomedcentral.com]

  Pyramidal signs were variably associated with several clinical features that are often observed in pure spastic paraplegia, such as decreased vibration sense in the lower limbs (58%), urinary urgency (38%), pes cavus (21%) and scoliosis (5%). [academic.oup.com]

• Incontinence

  “urgent urination” or whether it might be “ frequent urination ” (with or without a significant need or urge), “ excessive urination ” or “ large urine volume ” (frequent voiding of large amounts), or other bladder control symptoms such as “ urinary incontinence [familydiagnosis.com]

  He had symptoms of a neurogenic bladder, without incontinence. Electroencephalography (EEG), electromyography (EMG) and nerve conduction velocities (NCV) were normal. [journals.plos.org]

  […] the different symptoms varied with disease duration: proximal lower limb weakness ( P < 0.001), proximal and distal wasting ( P < 0.001), decreased vibration sense in the lower limbs ( P < 0.001), spasticity at rest ( P < 0.05) and urinary urgency or incontinence [academic.oup.com]

• Spastic Gait

  (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. [orpha.net]

  Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]

  Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

  Lewy bodies were seen in the substantia nigra. 12 The proband manifested slowly progressive spastic gait since age 18. [demneuropsy.com.br]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]

• Hyperreflexia

  60 Very frequent (99-80%) 8 difficulty standing 33 HP:0003698 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 [malacards.org]

  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]

  The key diagnostic findings are lower limb weakness, increased muscle tone, hyperreflexia, extensor plantar responses, and gait spasticity [ 2 ]. [bmcneurol.biomedcentral.com]

  Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

  All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia [ajnr.org]

• Babinski Sign

  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]

  Deep tendon reflexes were increased in all patients with clonus in 3 and bilateral Babinski sign in 4. [bmcneurol.biomedcentral.com]

  Pedigree number Gender Age at examination (years) Onset of symptoms  (years) SPRS SARA INAS Hyperreflexia UL/LL Babinski sign Clonus Decreased vibration sense Bladder disturbances Degree of disability MMSE Other signs PED1/II-1 proband M 56 40 24/52 [omicsonline.org]

  Primary lateral sclerosis The age of onset for primary lateral sclerosis (PLS) is usually between 40 and 60 years, with spasticity in the legs accompanied by hyperactive deep tendon reflexes, clonus, and Babinski sign. [emedicine.medscape.com]

• Limb Weakness

  weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. [orpha.net]

  The key diagnostic findings are lower limb weakness, increased muscle tone, hyperreflexia, extensor plantar responses, and gait spasticity [ 2 ]. [bmcneurol.biomedcentral.com]

  […] by progressive weakness and severe wasting of the upper and lower limbs, bilaterally. [emedicine.medscape.com]

  91% (195/214) Increased reflexes in the upper limbs 27% (54/204) Extensor plantar reflex 81% (174/216) Ankle clonus 62% (87/141) Proximal muscle weakness in the lower limbs 54% (113/208) Distal muscle weakness in the lower limbs 36% (64/179) Distal muscle [academic.oup.com]

• Lower Extremity Spasticity

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

  The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [centogene.com]

  Given that both of these disorders are treatable, dopa-responsive dystonia should be excluded in a child with progressive gait disturbance and lower-extremity spasticity of unknown etiology, whereas arginase deficiency should be considered in a young [emedicine.medscape.com]

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]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.de]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]

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]

This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS. [emedicine.medscape.com]

Hereditary spastic paraplegia: Prognosis 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. [maria-online.com]

Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. [books.google.de]

Article / Publication Details First-Page Preview Abstract Objective: Investigation of etiological factors in mental retardation (MR). [karger.com]

Abstract We describe 4 siblings with spastic paraparesis and peroneal amyotrophy who were prone to severe pain and painful dysesthesias, tetraparesis and pyramidal signs during pyrexial episodes of variable etiology. [link.springer.com]

Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS. [emedicine.medscape.com]

Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987 ; 41 : 933 –43 ↵ Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. [ajnr.org]

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

„Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.” Neuroepidemiology, 2002;21: 241-245. [tankonyvtar.hu]

[…] intellectual disability - motor dysfunction - multiple joint contractures Total congenital cataract Synonym(s): - SCA26 Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

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]

DESIGN This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology, and biomarkers. [clinicaltrials.gov]

„New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.” J Neurol, 2011;258: 1594-602. Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I. [tankonyvtar.hu]

Such findings could evolve to become a valuable parameter, together with neuroimaging and other biomarkers, to help better understand the pathophysiology of the disease. Author contributions. [demneuropsy.com.br]

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]

The results suggest that inhibited endocytosis is part of the pathophysiological mechanisms leading to HSP in this family. [bmcneurol.biomedcentral.com]

Suicide prevention Everything NICE has said on preventing suicide in community and residential custodial and detention settings in an interactive flowchart Bipolar disorder Everything NICE has said on recognising, assessing and managing bipolar disorder [evidence.nhs.uk]

Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]

Conclusion: Establishing the diagnosis in older mentally retarded patients is important in the prevention of medical complications and in the development of management strategies for the institution. [karger.com]

Bjorkhem, Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice. PLoS One, 2013. 8(7): p. e68031. Martin, E.*, R. Schule*, K. Smets*, A. Rastetter, A. Boukhris, J.L. Loureiro, M.A. [hih-tuebingen.de]