Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. [orpha.net]

[…] half of the patients presenting missense mutations. [jnnp.bmj.com]

HSP can be classified as pure or uncomplicated if no additional findings are present (2). Age of onset of HSP can range from early childhood to late adulthood. [dnatesting.uchicago.edu]

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 full spectrum of diseases involving spasticity in adults and children and the unique diagnostic and management challenges they present is addressed by experienced clinicians. [books.google.com]

• Epilepsy

  الصفحة 349 - RM (1993): Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. [books.google.com]

  Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. [orpha.net]

  0/315 1/191 [0.5%] Stewart et al.36 5 Idiopathic general epilepsies (IGE) 12/1234 [1%] 6/3022 [0.2%] De Kovel et al.29 6 Childhood absence epilepsy (CAE) 3/198 [1.5%] 0/400 Jiang et al.37 7 Amyotrophic lateral sclerosis 15/4434[0.34%] 15/14618[0.1%] [omicsonline.org]

  For example, a person with pure HSP may have peripheral neuropathy caused by diabetes, or he or she may have unrelated epilepsy. Additional symptoms The classic symptom of HSP is progressive difficulty in walking, but the severity varies. [emedicine.medscape.com]

  Clinically, HSP can be classified as “complicated” or “complex” if the patient presents with other neurological and systemic features in addition to HSP, such as ataxia, dystonia, intellectual disability, dementia, optic atrophy, retinitis pigmentosa, epilepsy [dnatesting.uchicago.edu]

• Persistent Vomiting

  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]

• Thrombosis

  […] resources eMedicine : pmr/45 Orphanet : 685 v t e Diseases of the nervous system, primarily CNS ( G04–G47, 323–349 ) Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis [maria-online.com]

• Long Arm

  This process is due to mutations in the gene NIPA1, located on the long arm of chromosome 15 (15q11.2). This gene encodes a transporter magnesium is associated with endosomes and the cell surface in a variety of neuronal and epithelial cells. [ivami.com]

  The deletion of the proximal long arm of chromosome 15 embracing TUBGC5, NIPA1, NIPA2 and CYFIP1 is well recognised in Prader-Willi syndrome, a complex multisystem disorder that is characterised by neonatal hypotonia, hyperphagia, short stature, obesity [omicsonline.org]

• Fracture

  98.37 4 of 4 ALG14 Congenital Myasthenic Syndrome AR 99.99 7 of 7 ALG2 Congenital Disorder Of Glycosylation Type II AR 99.61 7 of 7 ALG3 Congenital Disorder Of Glycosylation Type Id AR 99.2 25 of 25 ASCC1 Spinal Muscular Atrophy With Congenital Bone Fractures [igenomix.es]

• Onset in Adolescence

  ORPHA:100988 Synonym(s): SPG6 Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult ICD-10: G11.4 OMIM: 600363 UMLS: C1838192 MeSH: C536866 GARD: 4928 MedDRA: - The documents contained in this web site are presented for [orpha.net]

• Incontinence

  incontinence at least daily/nightly, while 27.4% needed to urinate more than eight times daily and 51.9% experienced sudden urges to urinate. [emedicine.medscape.com]

  In some forms of the disease, urinary symptoms such as incontinence may occur. In some cases, weakness and stiffness can spread to other parts of the body. [ivami.com]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [malacards.org]

  […] at ankles 0010505 Limited hip movement 0008800 Pes cavus High-arched foot 0001761 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 5%-29% of people have these symptoms Postural tremor 0002174 Tremor Tremors 0001337 Urinary incontinence [rarediseases.info.nih.gov]

• Hyperreflexia

  Search Search for a rare disease Autosomal dominant spastic paraplegia type 6 Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia [orpha.net]

  Orpha Number: 100988 Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well [rarediseases.info.nih.gov]

• Spastic Gait

  0002061 Progressive Worsens with time 0003676 Seizures Seizure 0001250 Spastic gait Spastic walk 0002064 Urinary bladder sphincter dysfunction 0002839 Urinary urgency Overactive bladder 0000012 Variable expressivity 0003828 Showing of 26 | Last updated [rarediseases.info.nih.gov]

• Babinski Sign

  Related phenotypes are babinski sign and talipes equinovarus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE27 gene on chromosome 10q24. [malacards.org]

  Showing of 26 | 80%-99% of people have these symptoms Babinski sign 0003487 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Impaired vibratory sensation Decreased vibration sense Decreased vibratory sense Diminished vibratory [rarediseases.info.nih.gov]

• Lower Extremity Spasticity

  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. [ebi.ac.uk]

  Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness. [asperbio.com]

  […] characterized by progressive, usually severe, lower extremity spasticity and weakness. [flybase.org]

  Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal [genecards.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]

• Memory Impairment

  Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. [orpha.net]

  All three mutations associated with memory impairment in our cohort are missense variants located in the highly conserved AAA domain. [jnnp.bmj.com]

  Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Last updated: 4/1/2017 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia [hspersunite.org.au]

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]

A Doody's Core Title 2012 Spasticity: Diagnosis and Management is the first book solely dedicated to the diagnosis and treatment of spasticity. [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]

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]

Treatment - Spastic paraplegia 6- autosomal dominant Not supplied. Resources - Spastic paraplegia 6- autosomal dominant Not supplied. [checkorphan.org]

However, HSPers report benefits from treatments as diverse as ankle / foot surgery where tendons are relocated, to fitness and specialised treatment from neurophysiotherapists for muscle strength and range of motion. [hspersunite.org.au]

Prognosis - Spastic paraplegia 6- autosomal dominant Not supplied. Treatment - Spastic paraplegia 6- autosomal dominant Not supplied. Resources - Spastic paraplegia 6- autosomal dominant Not supplied. [checkorphan.org]

Determining the molecular basis of disease using genetic testing can be useful in predicting prognosis and disease course, and can aid in identification of at-risk family members. [dnatesting.uchicago.edu]

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]

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]

Hereditary Spastic Paraplegia Etiology HSP is a highly genetically heterogeneous group of disorders (4). 70-80% of HSP is inherited in an autosomal dominant manner, and the majority of dominant HSP is classified as uncomplicated or pure HSP (2). [dnatesting.uchicago.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]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

Tijana Copf, Impairments in dendrite morphogenesis as etiology for neurodevelopmental disorders and implications for therapeutic treatments, Neuroscience & Biobehavioral Reviews, 10.1016/j.neubiorev.2016.04.008, 68, (946-978), (2016). [doi.org]

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

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

Epidemiology The prevalence of HSP varies in different studies. Such variation is probably due to a combination of differing diagnostic criteria, variable epidemiological methodology, and geographical factors. [jnnp.bmj.com]

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]

Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto and Shoji Tsuji, Molecular epidemiology [doi.org]

Spasticity: Diagnosis and Management clearly defines the process for the diagnosis of spasticity, the basic science behind its pathophysiology, the measurement tools used for evaluation, and reviews the available treatment options. [books.google.com]

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

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]

[…] and Neurosurgery, London, UK 3 Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Republic of Moldova 4 Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy 5 Department of Pathophysiology [jnnp.bmj.com]

Prevention - Spastic paraplegia 6- autosomal dominant Not supplied. [checkorphan.org]

Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier. [nhs.uk]

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]

For patients with walking (gait) problems, canes, walkers, and wheelchairs will facilitate mobility and help to prevent falling and subsequent injury. A number of drugs are available to reduce some of the symptoms of HSP. [medschool.lsuhsc.edu]