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]

Fourteen patients (87%) had dysarthria, 7 (44%) presented head tremor, and 2 (12.5%) had retinitis pigmentosa. Mild cerebellar atrophy was present in 5 (45%) of 11 patients who underwent MRI or CT investigation. [healthdocbox.com]

• Weakness

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [malacards.org]

  Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). [rarediseases.org]

• Camping

  It had the potential to be a lot worse there, as there was some sort of soccer camp and 5 large busses worth of high-school soccer players from all over south america were clearing through ONE border agent. [flyertalk.com]

  Fransen E, Van Camp G and Vits L (1997) L1‐associated diseases: clinical geneticists divide, molecular geneticists unite. Human Molecular Genetics 6(10): 1625–1632. [els.net]

  Mitochondrion. 2011; 11 :70–5. [ PubMed : 20656066 ] Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. Evidence for somatic and germline mosaicism in CRASH syndrome. [ncbi.nlm.nih.gov]

• 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]

• Multiple Congenital Anomalies

  […] epiphyseal dysplasia 2 Micro syndrome Stiff skin syndrome Immunodeficiency with hyper IgM type 1 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Pachydermoperiostosis X-linked intellectual disability - short stature ‚Äì obesity Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus [checkrare.com]

• Persistent Vomiting

  MalaCards based summary : Spastic Paraplegia 29, Autosomal Dominant, also known as spg29, is related to spastic paraplegia 29, and has symptoms including clonus, urgency of micturition and persistent vomiting. [malacards.org]

  vomiting due to a hiatal or paraesophageal hernia. [orpha.net]

  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]

• Vomiting

  Most common symptoms of SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Autosomal dominant inheritance Seizures Hearing impairment Sensorineural hearing impairment Vomiting More info about SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 SOURCES: GARD [mendelian.co]

  MalaCards based summary : Spastic Paraplegia 29, Autosomal Dominant, also known as spg29, is related to spastic paraplegia 29, and has symptoms including clonus, urgency of micturition and persistent vomiting. [malacards.org]

  Disease definition A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting [orpha.net]

  […] type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting [rarediseases.info.nih.gov]

  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]

• Muscle Spasm

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [malacards.org]

• Muscle Spasticity

  Paraplegia 24, Autosomal Recessive: clonus, muscle spasticity, difficulty standing Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive Anatomical Context for Spastic Paraplegia [malacards.org]

  SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. [rarediseases.info.nih.gov]

  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]

• Muscle Cramp

  cramps acral enlargement Johnson Munson syndrome Chromosome Xq28 deletion syndrome Hunter-McAlpine syndrome Neuroaxonal dystrophy, infantile Branchiootic syndrome Hereditary sensory and autonomic neuropathy type 2 Ring chromosome 12 Ichthyosis, leukocyte [checkrare.com]

• Hearing Impairment

  Most common symptoms of SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Autosomal dominant inheritance Seizures Hearing impairment Sensorineural hearing impairment Vomiting More info about SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 SOURCES: GARD [mendelian.co]

  impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. [orpha.net]

  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]

  […] frequent (99-80%) HP:0001258 3 clonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002169 4 scissor gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0012407 5 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051 6 sensorineural hearing [malacards.org]

• Onset in Adolescence

  The only thing that differentiates this family from DYT2 families is onset during adolescence rather than childhood. Clinically, DYT17 is quite similar to DYT2 dystonia. [nanopdf.com]

• Spastic Paraplegia

  An important gene associated with Spastic Paraplegia 29, Autosomal Dominant is SPG29 (Spastic Paraplegia 29 (Autosomal Dominant)). Related phenotypes are lower limb hyperreflexia and babinski sign [malacards.org]

  SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Alternate names SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Is also known as ;spg29 Description Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia [mendelian.co]

  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]

  Name spastic paraplegia 10 FlyBase ID FBhh0000037 Disease Ontology Term Parent Disease This report describes spastic paraplegia 10 (SPG10), which is a subtype of spastic paraplegia; SPG10 exhibits autosomal dominant inheritance. [flybase.org]

  Company 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 [centogene.com]

• Peripheral Neuropathy

  In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. [1] [2] The different forms of HSP are caused by mutations in different genes. Inheritance varies. [rarediseases.info.nih.gov]

  Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra [malacards.org]

  Five patients (2 from family I, 2 from family II, and 1 from family IV) had a peripheral neuropathy diagnosed by neurography and electromyography consisting of axonal motor neuropathy. [ajnr.org]

  HSP is termed as ‘complicated’ if additional symptoms such as dementia, extrapyramidal disturbance or peripheral neuropathy occur. [research.unipd.it]

• 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]

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

  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]

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]

Thorough coverage for each neurological disease clearly defines age at onset, course of illness, clinical features, and treatment options. Differential diagnosis tables and treatment algorithms expedite clinical decision making. [books.google.ro]

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]

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]

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]

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]