Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy. [ncbi.nlm.nih.gov]

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]

RESULTS Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. [jnnp.bmj.com]

• Hemophilia A

  X-linked lymphoproliferative disease Rare immune disease Rare oncologic disease 1 0 0 Severe hemophilia A Rare hematologic disease 1 0 0 Moderately severe hemophilia A Rare hematologic disease 1 0 0 McCune-Albright syndrome Rare developmental defect during [mousebook.org]

  A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A. Muscle and Nerve, 46(3), 454-455. [More Information] Solski, J., Yang, S., Nicholson, G., Luquin, N., Williams, K., Fernando, R., Pamphlett, R., Blair, I. (2012). [sydney.edu.au]

• Disability

  Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Human phenotypes related to Spastic Paraplegia 32, Autosomal Recessive: 60 33 (show all 19) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability [malacards.org]

  For a subset of patients (n = 65), disability was evaluated using the SPATAX-EUROSPA disability score, ranging from 0 (no disability) to 7 (severe disability/confined to bed). [ng.neurology.org]

  […] spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability [monarchinitiative.org]

• Difficulty Walking

  Paraplegia 32, Autosomal Recessive Summaries for Spastic Paraplegia 32, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: hyperreflexia difficulty [malacards.org]

  HSP clinical syndromes may be limited to difficulty walking due to lower extremity spastic weakness (“uncomplicated HSP”) or may include other neurologic or systemic disturbances (“complicated HSP”). [mhmedical.com]

  An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. [ghr.nlm.nih.gov]

  Balance difficulty, often worse when walking in the dark or on uneven surfaces is not uncommon in individuals with HSP. Tightness in the legs and leg muscle spasm (often at night) are not uncommon. [rarediseases.org]

• Collapse

  […] telangiectasia MND UMN only: PLS · PP · HSP LMN only: Distal hereditary motor neuropathies · Spinal muscular atrophies ( SMA, SMAX1, SMAX2, DSMA1, SMA-PCH, SMA-LED ) · PMA · PBP ( Fazio-Londe, Infantile progressive bulbar palsy ) both: ALS {| class="navbox collapsible [psychology.wikia.com]

• Muscle Spasticity

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

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

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

• Incontinence

  For the past year he has been confined to a wheelchair with both urinary and faecal incontinence. At 34 years he developed hallucinations, paranoid ideation, and mood swings. [jnnp.bmj.com]

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

  He complained of pollakiuria and urinary incontinence but not of constipation or orthostatic hypotension. There was no evidence of sensory disturbance. His condition was still consistent with cerebellar ataxia associated with urinary disturbance. [nature.com]

  SPG48 Two siblings in the one French family have pure adult-onset spastic paraplegia and urinary incontinence with hyperintensity of the cervical spinal cord (C3-4,7) in one sibling as the only distinguishing magnetic resonance imaging (MRI) feature [ [intechopen.com]

• Spastic Paraplegia

  Aliases & Classifications for Spastic Paraplegia 32, Autosomal Recessive Summaries for Spastic Paraplegia 32, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Human phenotypes related to Spastic Paraplegia 32, Autosomal [malacards.org]

  […] instituto de biologia molecular e celular | institute for molecular and cell biology You are here Home » A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21 A new locus for autosomal recessive spastic paraplegia (SPG32 [ibmc.up.pt]

  Heritability: Autosomal recessive inheritance Clinical Modifiers: Slow progression, Childhood onset AKA: hereditary spastic paraplegia type 32, spastic paraplegia 32, autosomal recessive, autosomal recessive spastic paraplegia 32, spastic paraplegia 32 [monarchinitiative.org]

  spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex hereditary spastic paraplegia Spastic paraplegia type 2 Spastic paraplegia type 7 X-linked complex spastic paraplegia X-linked pure spastic paraplegia X-linked spastic [se-atlas.de]

• Spastic Gait

  List for Spastic gait List of possible causes of Spastic gait or similar symptoms may include: 2 Amyotrophic Lateral Sclerosis type 2, Juvenile (Spastic gait) Amyotrophic lateral sclerosis type 2 (Spastic gait) Ataxia (Spastic gait) Autosomal dominant [familydiagnosis.com]

  (show all 11) # Description HPO Frequency HPO Source Accession 1 intellectual disability, mild 32 HP:0001256 2 spastic paraplegia 32 HP:0001258 3 cerebellar atrophy 32 HP:0001272 4 pes cavus 32 HP:0001761 5 cerebral atrophy 32 HP:0002059 6 spastic gait [malacards.org]

  Get Update Overview SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. [diseaseinfosearch.org]

  Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) View Table | Favorite Table | Download (.pdf) Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) Spastic Gait (SPG) Locus OMIM Number Protein (genetic locus if protein is unknown [mhmedical.com]

• Hyperreflexia

  60 Frequent (79-30%) 18 progressive peripheral neuropathy 60 Frequent (79-30%) 19 cerebral atrophy 33 HP:0002059 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: hyperreflexia difficulty walking cerebellar atrophy lower [malacards.org]

  Get Update Overview SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. [diseaseinfosearch.org]

  Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. [thieme-connect.com]

  On exam, both have bradykinesia, dystonia, hyperreflexia, increased tone, and spastic/ataxic gait, though sister’s symptoms are less severe. [mdsabstracts.org]

• Tremor

  13q14 – Pure 1 No – – SPG25 ( Zortea et al ., 2002 ) 6q23-q24.1 – Complex 30–46 No Yes Multiple disc herniation, bilateral cataract, congenital glaucoma SPG26 ( Wilkinson et al ., 2005 ) 12p11.1–12q14 – Complex 22–42 No Yes Emotional lability, tongue tremor [academic.oup.com]

  […] and postural abnormalities with generalized dystonia and parkinsonism and at autopsy, severe depigmentation (hypomelanization) of the large neurons of the substantia nigra and the locus ceruleus DYT-15 18p11 dystonia 15, myoclonic Autosomal Dominant Tremor [cmdg.org]

  The sister carrying the R294H variant had an ataxic gait and hand tremor at 3 years, which was not present in her sister. [epilepsygenetics.net]

  Hand tremor and upper limb spasticity have also been reported. Onset can range from infancy to older adulthood. [flybase.org]

  Although he reached out for objects in front and to the side of him without any tremor he was unable to lift his arms above his head. [jnnp.bmj.com]

• Babinski Sign

  sign 32 HP:0003487 10 lower limb muscle weakness 32 HP:0007340 11 ankle clonus 32 HP:0011448 Drugs & Therapeutics for Spastic Paraplegia 32, Autosomal Recessive Genetic Tests for Spastic Paraplegia 32, Autosomal Recessive Anatomical Context for Spastic [malacards.org]

  His deep tendon reflexes were normal in the upper limbs but enhanced in the lower limbs, and Babinski sign was positive bilaterally. Extrapyramidal signs were not noted. His gait was wide-based, staggering and spastic. [nature.com]

  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]

  Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency. [omicsonline.org]

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]

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]

It brings together nearly the entire spectrum of motor disorders and Neurology into one convenient resource to aid in a comprehensive evaluation, diagnosis, distinction, and treatment of various disorders. [books.google.ro]

Fatemi Oxford University Press, ١٨‏/٠٨‏/٢٠١٦ - 1488 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments [books.google.com]

Standard Therapies Treatment: management of symptoms Despite encouraging progress in many research laboratories (see reference 7 for example), treatment for HSP is presently limited to reducing symptoms of muscle weakness, spasticity, and urinary urgency [rarediseases.org]

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]

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 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]

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]

Keppen LD, Leppert MF, O'Connell P et al : Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987; 41 : 933–943. 8. Schule R, Schols L : Genetics of hereditary spastic paraplegias. Semin Neurol 2011; 31 : 484–493. 9. [doi.org]

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

Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [^] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [^] 7. [moldiag.com]

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet 2014; 59 : 163–172. [nature.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]

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]

This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP. [academic.oup.com]

Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry, 84(8), 931-935. [sydney.edu.au]

Terms and Conditions apply. 200 AMP Battery Isolator and Relay Prevents primary battery discharge Maximum current transfer Extends battery life Universal 12V Applications Product description Product Packaging: Standard Packaging 200 AMP Battery Isolator [amazon.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]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.com]

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]