Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.de]

Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 29 Disease definition A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the [orpha.net]

All the information presented here about the SPG29 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC. [mendelian.co]

Son of nonconsanguineous parents, he presented ichthyosis from early infancy. Born slightly cyanosed due to postmaturity and prolonged labor from primary uterine inertia, the patient presented normal psychophysical development. [slideheaven.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.es]

• Hyperreflexia

  […] in upper limbs Not very common - Between 30% and 50% cases Upper limb spasticity Commonly - More than 50% cases Impaired proprioception Not very common - Between 30% and 50% cases Hiatus hernia Commonly - More than 50% cases Lower limb hyperreflexia [mendelian.co]

  Related phenotypes are lower limb hyperreflexia and babinski sign [malacards.org]

  […] hernia 0002036 Hyperbilirubinemia High blood bilirubin levels 0002904 Pes cavus High-arched foot 0001761 5%-29% of people have these symptoms Abnormality of the lower urinary tract 0010936 Clonus 0002169 Hyperreflexia in upper limbs 0007350 Impaired [rarediseases.info.nih.gov]

• Babinski Sign

  Related phenotypes are lower limb hyperreflexia and babinski sign [malacards.org]

  Showing of 25 | 80%-99% of people have these symptoms Babinski sign 0003487 Lower limb hyperreflexia Overactive lower leg reflex 0002395 30%-79% of people have these symptoms Hearing impairment Deafness Hearing defect [ more ] 0000365 Hiatus hernia Stomach [rarediseases.info.nih.gov]

• Lower Extremity Spasticity

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

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

  The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [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]

• Vibratory Sense Decreased

  […] sensation in extremities 0002936 Hyperreflexia Increased reflexes 0001347 Impaired vibration sensation in the lower limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities [rarediseases.info.nih.gov]

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.es]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.de]

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]

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]

Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture. [jnnp.bmj.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]

Perhaps because of their eagerness to demonstrate an understanding of the genetics of dystonias, discover new etiologies and create new classifications for dystonias, researchers rush to create new genetic diseases or modify their previous understanding [nanopdf.com]

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]

Ichthyoses may be classified etiologically as congenital or acquired, in terms of course as benign or malignant, and in terms of association with other symptoms as unassociated, associated with neurological disorders, associated with other disorders [slideheaven.com]

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

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.es]

Epidemiology of pertussis and haemophilus influenzae type b disease in Canada with exclusive use of a diphtheria-tetanus-acellular pertussis- inactivated poliovirus-haemophilus influenzae type b pediatric combination vaccine and an adolescent-adult tetanus-diphtheria-acellular [wordscope.com]

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

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.es]

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]

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]

Canada with exclusive use of a diphtheria-tetanus-acellular pertussis- inactivated poliovirus-haemophilus influenzae type b pediatric combination vaccine and an adolescent-adult tetanus-diphtheria-acellular pertussis vaccine: Implications for disease prevention [wordscope.com]

There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy. [2] [3] Last updated: 4/24/2016 [rarediseases.info.nih.gov]

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]