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.com]

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]

Since its first report from Québec, more than 100 disease-causing variants have been reported in ARSACS, with variable clinical presentation. MRI imaging may help establishing the clinical diagnosis, especially if typical changes are present. [oatext.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]

Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings. [jnnp.bmj.com]

• Difficulty Walking

  Progressive difficulty walking is the main problem and occurs due to taut and weak muscles. This manifests initially as stumbling, stubbing the toe, catching of the feet on uneven surfaces and sidewalks, clumsy gait, or difficulty with balance. [encyclopedia.com]

  Most patients present with difficulty walking or gait disturbance, noticed either by themselves or a relative. In those with childhood onset, a delay in walking is not uncommon. [jnnp.bmj.com]

• 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]

• Vomiting

  SPG29 1p31-p21 Unknown Complicated: deafness, persistent vomiting from hiatal hernia. SPG31 REEP1 2p11.2 Receptor expression enhancing protein 1 (REEP1) Pure. May be complicated by Silver-syndrome. SPG33 ZFYVE27 10q24.2 Protrudin Pure. [scielo.br]

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

• Visual Impairment

  Some of these disorders include involvement of other systems, such as visual impairment or ataxia, but the pure form is limited to spastic paraplegia. [docslide.com.br]

  Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1]. [journals.plos.org]

• Muscle Spasticity

  To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity. [els.net]

  Key words: hereditary spastic paraplegia; spastic paraplegia; muscle spasticity; genetics; mutation RESUMO Paraplegias espásticas hereditárias (PEH) constituem um grupo de desordens geneticamente determinadas caracterizadas por espasticidade e paraparesia [scielo.br]

  A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 1967, 16 :473–485. PubMed Google Scholar 55. [link.springer.com]

• Spastic Paraplegia

  Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). Mov Disord 2006; 21(2):279-281. 33. Matsui M, Kawarai T, Hase Y, et al. Novel mutation in SPG3A gene (atlastin) in hereditary spastic paraplegia. [siicsalud.com]

  Home Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP) autosomal [centogene.com]

  Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. [ghr.nlm.nih.gov]

  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008 ; 7 : 1127 - 1138. 2. Fink, JK. Hereditary spastic paraplegia overview. In: Pagon RA, Adam MP, Ardinger HH, et al ., editors. GeneReviews. [cambridge.org]

  Masatoyo Nishizawa 1 1 Department of Neurology, Brain Research Institute, Niigata University キーワード： hereditary spastic paraplegia, thin corpus callosum, dementia, autosomal recessive, SPG 11 Keyword: hereditary spastic paraplegia, thin corpus callosum [webview.isho.jp]

• Dysarthria

  SPG26 Gene unknown 12p11-q14 Unknown Child onset, complicated:distal amyotrophy cognitive impairment, dysarthria. [scielo.br]

  66 dysarthria and mild facial immobility, 40 cardiac disease, 32 epilepsy, 39 and in the Mast syndrome which consists of spastic paraplegia with dementia, dysarthria, and athetosis. 62 Dementia has also been reported in both autosomal dominant and recessive [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]

  In specific, isolated families, the following symptoms have included: Mental retardation Dementia Epilepsy Peripheral neuropathy Retinopathy Optic neuropathy Deafness Ataxia Dysarthria Nystagmus Families who experience complicated HSP can also have symptoms [disabled-world.com]

  Spastic paraplegia, variably associated with cognitive decline, thin corpus callosum, upper extremity weakness, dysarthria and nystagmus ~ 1% ADHSP† ~ 8% ADHSP† ~ 5% ARHSP† Mutation frequency of 7.7% in pure recessive cases and 6.6% in complex forms6 [1pdf.net]

• Hyperreflexia

  People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [ghr.nlm.nih.gov]

  […] 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]

  Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3. [omicsonline.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]

  Adolescence to early adulthood AD Complicated BSCL2 (SPG17) DNA Sequencing Progresses insidiously and may become severe ~ 22 yrs, 12 – 35 yrs AD Uncomplicated NIPA1 (SPG6) DNA Sequencing Severe spasticity, hyperreflexia, lower-limb weakness and decreased [1pdf.net]

• Nystagmus

  Clinical case: A 7-year old boy presented an early-onset, progressive ataxia, with sensory-motor neuropathy, nystagmus, feet deformities and cognitive impairment. [oatext.com]

  In specific, isolated families, the following symptoms have included: Mental retardation Dementia Epilepsy Peripheral neuropathy Retinopathy Optic neuropathy Deafness Ataxia Dysarthria Nystagmus Families who experience complicated HSP can also have symptoms [disabled-world.com]

  Spastic paraplegia, variably associated with cognitive decline, thin corpus callosum, upper extremity weakness, dysarthria and nystagmus ~ 1% ADHSP† ~ 8% ADHSP† ~ 5% ARHSP† Mutation frequency of 7.7% in pure recessive cases and 6.6% in complex forms6 [1pdf.net]

  Other clinical complications are ataxia (incoordination), dysarthria (difficulty speaking), deafness, nystagmus (involuntary eye movements), decreased functioning of the adrenal glands, and ichthyosis (abnormal dryness, scaling, and thickening of the [encyclopedia.com]

  […] posterior columns, spinocerebellar tracts, vestibular nuclei, red nuclei, pontine nuclei, and the inferior olivary nuclei). 3 In addition to imbalance (midline ataxia), poor limb coordination (dysmetria/dysdiadochokinesia), dysarthria, oscillopsia, and nystagmus [elsevier.es]

• Tremor

  ( 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]

  Effective thalamic deep brain stimulation for neuropathic tremor in a patient with severe demyelinating neuropathy. Breit S, Wächter T, Schöls S, Gasser T, Nägele T, Freudenstein D, Krüger R. (2009), J Neurol Neurosurg Psychiatry. [dzne.de]

  […] syndrome does occur, although it is more common for patients also to present symptoms secondary to the involvement of other systems, such as intellectual disability, cognitive impairment, epilepsy, movement disorders (dystonia, chorea, parkinsonism, tremor [elsevier.es]

  Only one of five patients with hereditary spastic paraplegia showed clinical indication of extrapyramidal involvement in the form of subtle bradykinesia and slight resting tremor. [intechopen.com]

  Myopathy- Abnormal Genitalia Syndrome X,XR,G 99.98 NA of NA MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 MYBPC1 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor [igenomix.es]

While this adds considerable challenges in the diagnostic workup, certain specific complicating features may guide the differential diagnosis between the different HSPs. [scielo.br]

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.com]

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]

Treatment There is no curable or preventive treatment for HSP. Symptomatic treatment for muscle spasm and spasticity includes oral medications like baclofen, tizanidine, and benzodiazepines like valium. [encyclopedia.com]

Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. [nature.com]

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 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]

Prognosis Edit Although HSP is a progressive condition and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.com]

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

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Risch N et. al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [^] 26. [moldiag.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]

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

Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology 2013;41:118-130. [ Links ]. Vanacore N, Bonifati V, Fabbrini G, et al. Epidemiology of multiple system atrophy. [scielo.br]

An epidemiological and clinical study Brain, 114 (1991), pp. 855-866 [15] A. Durr Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond [16] OMIM. Online Mendelian Inheritance in Man, OMIM (TM). [elsevier.es]

Jorde LB et. al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [^] 6. [moldiag.com]

Pathophysiology HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns 35. [scielo.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]

Involuntary eyelid closure after STN-DBS: evidence for different pathophysiological entities. D. Weiss, T. Wächter, S. Breit, SN Jacob, JK Pomper, F. Asmus, J. Valls-Solé, C. Plewnia, T. Gasser, A. Gharabaghi, R. [dzne.de]

Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.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]

These compounds are useful tools in basic biomedical research and may be further developed for the treatment, prevention, or diagnosis of disease. [leibniz-fmp.de]

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

Primary objectives of medical genetics were clear: diagnosis, treatment, and prevention of genetic disorders. 1 As a result, molecular diagnosis of such genetic disorders as Huntington disease (HD), Alzheimer disease, spinocerebellar ataxias (SCA), familial [elsevier.es]

Hip and knee muscle retraction prevents full leg extension. [oatext.com]