Concise Neurology presents neurology content in a logical sequence within each of ten chapters. [books.google.es]

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]

The risk of an individual inheriting the abnormal gene depends on the mode of transmission and whether the mutated gene is present on a sex chromosome or an autosome. [encyclopedia.com]

If the production of the normal or the abnormal transcript were gender dependent, it might provide an explanation for the sex difference observed in the present family. [jmg.bmj.com]

However, evidence of spasticity may be present in children under 1 year of age. Some patients have normal mental functions while others are considered mentally retarded. [disorders.eyes.arizona.edu]

• Developmental Delay

  Epidemiology: Kuwait & Israel families; 4 patients Genetics Inheritance: Recessive Mutations: Homozygous frameshift (c.51_64delAGGTGGGGGTCCCC) or Missense (c.146G>C) Allelic disorder: SPAX1, Dominant Clinical Onset age: Birth Early motor: Hypotonia; Developmental [neuromuscular.wustl.edu]

  Michels Caskey syndrome Acrofacial dysostosis Catania type Colpocephaly Peutz-Jeghers syndrome Degos disease Hair defect with photosensitivity and mental retardation Absent breasts and nipples Alexander disease Tollner Horst Manzke syndrome Pili torti developmental [checkrare.com]

  Autosomal dominant PNKD 2q35 Paroxysmal nonkinesigenic dyskinesia 118800 609023 Autosomal dominant PNKP 19q13.33 Ataxia-oculomotor apraxia 4 616267 605610 Autosomal recessive PNKP 19q13.33 Microcephaly, seizures, and developmental delay 613402 605610 [mnglabs.com]

  Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. [ncbi.nlm.nih.gov]

• Pathologist

  PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Muscle Cramp

  cramps acral enlargement Johnson Munson syndrome Chromosome Xq28 deletion syndrome Hunter-McAlpine syndrome Neuroaxonal dystrophy, infantile Branchiootic syndrome Hereditary sensory and autonomic neuropathy type 2 Ring chromosome 12 Ichthyosis, leukocyte [checkrare.com]

  cramps 611773 120130 Autosomal dominant COL4A1 13q34 {Hemorrhage, intracerebral, susceptibility to} 614519 120130 COL4A1 13q34 Porencephaly 1 175780 120130 Autosomal dominant COL4A1 13q34 Brain small vessel disease with or without ocular anomalies 607595 [mnglabs.com]

• Foot Deformity

  […] defect coronary sinus Trisomy 3 mosaicism Syngnathia multiple anomalies VACTERL association Hepatic venoocclusive disease with immunodeficiency Ehlers-Danlos syndrome due to tenascin-X deficiency Typical congenital nemaline myopathy Split hand split foot [checkrare.com]

• Incontinence

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

• Lower Extremity Spasticity

  Get Update Overview The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {5:Fink et al. (1996)} and {4:Fink (1997) [diseaseinfosearch.org]

  Clinical Features  Symptoms depend on the type of HSP inherited  Main feature >>> progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles [slideshare.net]

  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. [reference.md]

  All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

  Non-syndromic spastic paraplegias are characterized by slowly progressive spasticity and weakness of the lower extremity, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint [blueprintgenetics.com]

• Hyperreflexia

  […] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia [slideshare.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]

  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]

  Diagnosis HSP is diagnosed by the following: 1) typical symptoms (lower extremity spastic weakness that may be non-worsening (early childhood onset) or slowly progressive over many years; 2) findings on neurologic examination (lower extremity hyperreflexia [rarediseases.org]

  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]

• Apraxia

  Boucher-Neuhauser syndrome, Spastic paraplegia 39 AR 26 58 RARS Leukodystrophy, hypomyelinating 9 AR 12 11 REEP1 Spastic paraplegia, Distal hereditary motor neuronopathy AD 16 60 SACS Spastic ataxia, Charlevoix-Saguenay AR 254 262 SETX Ataxia with oculomotor apraxia [blueprintgenetics.com]

  Around his seventies, he developed dementia (Mini- Mental State Examination Score 13/30) comprising memory impairment, naming difficulties, ideomotor apraxia and perseveration. [redalyc.org]

  […] syndrome 3MC syndrome Keratolytic winter erythema Genetic lipodystrophy Free sialic acid storage disease Spondyloepiphyseal dysplasia tarda X-linked Internal carotid agenesis Autosomal recessive intermediate Charcot-Marie-Tooth disease Ataxia-oculomotor apraxia [checkrare.com]

  Lebanese family Genetics WDR73 protein Clinical Onset: Congenital Ataxia Spasticity: Brisk tendon reflexes; Speech disorder Strength: Mildly reduced in legs Gait: 60% never walk Mental retardation: Severe; Little speech Eye: Optic atrophy; Oculomotor apraxia [neuromuscular.wustl.edu]

  Autosomal dominant PNKD 2q35 Paroxysmal nonkinesigenic dyskinesia 118800 609023 Autosomal dominant PNKP 19q13.33 Ataxia-oculomotor apraxia 4 616267 605610 Autosomal recessive PNKP 19q13.33 Microcephaly, seizures, and developmental delay 613402 605610 [mnglabs.com]

• Shuffling Gait

  The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. [diseaseinfosearch.org]

  MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome 0 *Intellectual Disability *Spastic Paraplegia, Hereditary. [reference.md]

  gait and adducted thumbs) syndrome, spastic paraplegia 1) neural cell adhesion molecule L1 L1CAM CAML1 CD171 HSAS HSAS1 MASA MIC5 S10 SPG1 308840 6470 lysine demethylase 5C DXS1272E XE169 KDM5C JARID1C MRX13 SMCX 314690 11114 lysosomal trafficking regulator [ukgtn.nhs.uk]

  XL 47 55 KIAA0196 Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome) AD/AR 15 18 KIF1A Spastic paraplegia, Neuropathy, hereditary sensory, Mental retardation AD/AR 63 42 KIF5A Spastic paraplegia AD 18 62 L1CAM Mental retardation, aphasia, shuffling [blueprintgenetics.com]

• Tremor

  […] the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic shaking (tremor [ghr.nlm.nih.gov]

  R731X (Stop); Deletion KIF1C protein Axon transport, Anterograde Kinesins: Other disorders Onset Age: Range 1 to 69 years; Often 6 to 18 years Dysphagia Falling Clinical Cerebellar ataxia Dysarthria Gait disorder Nystagmus: Horizontal; Some patients Tremor [neuromuscular.wustl.edu]

  ( Essential tremor, Intention tremor ) · Restless legs · Stiff person Dementia Tauopathy : Alzheimer's ( Early-onset ) Primary progressive aphasia · Frontotemporal dementia / Frontotemporal lobar degeneration ( Pick's, Dementia with Lewy bodies ) Multi-infarct [psychology.wikia.com]

  Dihydropyrimidine dehydrogenase deficiency 274270 612779 Autosomal recessive DPYS 8q22.3 Dihydropyrimidinuria 222748 613326 Autosomal recessive DRD3 3q13.31 {Schizophrenia, susceptibility to} 181500 126451 Autosomal dominant DRD3 3q13.31 {Essential tremor [mnglabs.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]

Treatment Treatment Options: Mobility devices and physical therapy can be helpful, especially in younger individuals. [disorders.eyes.arizona.edu]

Virtually every topic of interest to clinicians is covered in one or two pages to facilitate efficient review of the core concepts in diagnosis and treatment for each syndrome or disease. [books.google.es]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

For people with HSP who experience bladder control issues, treatment with oxybutynin might help to relieve bladder spasticity. [disabled-world.com]

Treatment 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 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]

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. [ipfs.io]

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]

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 This varies widely, but most often HSP is compatible with a normal life expectancy. The rate of progression varies considerably and is influenced by the mode of inheritance. [encyclopedia.com]

[…] neighboring pages will rapidly refresh the position of the clinically relevant thrombophilias in relation to the coagulation pathway, indications for lifelong anticoagulation, causes of hyperhomocysteinemia, and the bare bones of the most important etiologies [books.google.es]

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

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

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

Ruano L, Melo C, Silva MC, Coutinho P: The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 2014;42:174-183. [karger.com]

Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000 [ipfs.io]

The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5 [en.wikipedia.org]

The book presents higher level content than the student "In a Page" text, covers each topic in more depth, and addresses issues related to pathophysiology and neuropathology of diseases. [books.google.es]

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]

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. [redalyc.org]

Treatment 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 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]

- Not having an iron core in the rotor prevents cogging caused by magnetic induction; hence the rotation is smooth, with minimum noise and vibration. - By utilizing rare earth magnet with high magnetic properties together with a rotor in basket configuration [namikisingapore.com.sg]

Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores. [encyclopedia.com]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]