ORPHA:320355 Synonym(s): SPG41 Prevalence: Inheritance: Autosomal dominant Age of onset: Adolescent, Adult ICD-10: G11.4 OMIM: 613364 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only [orpha.net]

Urinary symptoms, such as incontinence, are present in up to 50% of individuals diagnosed with HSP [11]. [physio-pedia.com]

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

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

Google Scholar | Crossref | Medline Lovestone, S., Hodgson, S., Sham, P., Differ, A.M. & Levy, R. ( 1996 ) `Familial Psychiatric Presentation of Huntington's Disease', Journal of Medical Genetics 33 (2): 128 — 31. [journals.sagepub.com]

• Proximal Muscle Weakness

  muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [orpha.net]

  weakness, muscle pain, myotonia). [aetna.com]

• Proximal Muscle Weakness of the Lower Extremity

  muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [orpha.net]

• Small Hand

  hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [orpha.net]

• Arthralgia

  Familial Cold Autoinflammatory Syndrome Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria (FCU), is an autosomal dominant condition characterized by rash, conjunctivitis, fever/chills and arthralgias elicited by exposure [aetna.com]

• Onset in Adolescence

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 41 Disease definition A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic [orpha.net]

• Nocturia

  […] et al (2011) wrote that nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure in children and young adults; early presenting symptoms in children with NPHP include polyuria, nocturia [aetna.com]

• Hyperreflexia

  […] paraplegia type 41 Disease definition A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia [orpha.net]

  Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome [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]

  […] whether the disorder is a pure spastic paraplegia or a more complex syndrome with other associated features. 1 Autosomal dominant pure spastic paraplegia (ADPSP) is clinically characterised by slowly progressive spasticity and weakness of the legs, hyperreflexia [jnnp.bmj.com]

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

• Spastic Gait

  […] paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [orpha.net]

  If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [ipfs.io]

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

  Grade 2 refers to a patient with spastic gait, able to walk independently with or without support. Grade 3 refers to a chairbound or bedridden patient. [jnnp.bmj.com]

  Winner B, Uyanik G, Gross C et al. (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of Neurology 61: 117–121. [els.net]

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]

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]

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]

Fourteen patients completed screening and treatment. *** Livewell Southwest exceeded their recruitment target of 20 for the PD Safe study all within seven weeks of approval and opening. [researchreadydrive.co.uk]

Gilbert directs or participates in a number of single and multi-center studies into causes and treatments of Tourette's syndrome. Dr. [books.google.com]

It is to be noted, however, that vinblastine treatment was associated with small levels of toxicity (Figure 1 and Supplemental Figure 4). [jci.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]

Diagnosis of HSP before the age of 35 leads to a better prognosis compared to diagnosis later in life. Diagnosis after the age of 35 is associated with a more rapid progression of the disease and a greater likelihood of losing the ability to walk. [physio-pedia.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 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]

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]

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]

Keppen L, Leppert M, O'Connell P (1987) Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41:933-43. Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nature Genet 7:351-2. [med.umich.edu]

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]

Etiology HSP, as the name indicates, is inherited genetically through the individual's parents. HSP, however, is unique to other hereditary disorders as there are multiple mechanisms responsible for this disorder's onset. [physio-pedia.com]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

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

A population-based survey from 1993-2004 and a retrospective medical record review allowed a systematic review of clinical, genetic, and epidemiologic features of 89 Portuguese families, who had a total of 239 patients with autosomal dominant hereditary [medscape.com]

Epidemiology The global prevalence of HSP is difficult to quantify due to the lack of epidemiological studies of acceptable quality and the difficulty of diagnosing HSP, as it overlaps with other neurological diseases [12]. [physio-pedia.com]

An epidemiological and clinical study. Brain. 1991 ; 114 (Pt 2 ): 855 - 66. 3. Hazan, J, Fontaine, B, Bruyn, RP, Lamy, C, van Deutekom, JC, Rime, CS, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. [cambridge.org]

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]

His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models. [books.google.com]

[…] phenotypic heterogeneity might suggest an unstable trinucleotide repeat as the underlying molecular mutation, 28 but further investigations, including molecular genetic studies, will be required to identify the genes responsible of ADPSP to elucidate the pathophysiological [jnnp.bmj.com]

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia. Journal of Rehabilitation Medicine, 2017;49:369-377. DOI : 10.2340/16501977-2227 ↑ Watanabe T. [physio-pedia.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]

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

Even though physical therapy does not either prevent or reduce degenerative changes to the person's spinal cord, it is believed that receiving regular therapy can play an important part in assisting people with HSP to maintain and increase their muscle [disabled-world.com]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]