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]

• Pain

  Adams Jr., University of Iowa - Peripheral and Autonomic Nervous System Disorders and Pain-Nicholas Maragakis, Johns Hopkins University - Neoplastic and Paraneoplastic Diseases-Lisa DeAngelis, Memorial Sloan-Kettering Cancer Center - Infectious Diseases [books.google.de]

  Case 4 - - M a n aged 39 Principal clinical features: ichthyosis, palpebral ptosis, facial pains, neurosis. [slideheaven.com]

  […] sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Insidious onset Gradual onset 0003587 Low back pain [rarediseases.info.nih.gov]

  Hypertonic bladder benefits from anticholinergic drugs and neuropathic pain from gabapentin or pregabalin. Parkinsonism, dementia, and epilepsy are treated according to the respective guidelines. [centogene.com]

• Progressive Dementia

  Dementia, progressive Progressive dementia [ more ] 0000726 Depressivity Depression 0000716 Disinhibition 0000734 Genetic anticipation 0003743 Hyperreflexia Increased reflexes 0001347 Impaired vibration sensation in the lower limbs Decreased lower limb [rarediseases.info.nih.gov]

• Muscle Rigidity

  The symptoms of HSP can include the following: Abnormal gait Delayed walking Repeated tripping or falling Weakness of the leg muscles Rigidity and increased tone of the person's leg muscles People with uncomplicated HSP can also experience additional [disabled-world.com]

• Muscle Weakness

  Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves spasticity of the leg muscles and muscle weakness. [ghr.nlm.nih.gov]

  […] stiffness 0008969 Lower limb muscle weakness Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Lower limb spasticity 0002061 Urinary urgency Overactive bladder 0000012 5%-29% of people have these symptoms Cognitive [rarediseases.info.nih.gov]

  weakness and muscle tightness (spasticity) in the legs. [rarediseases.org]

  Affected individuals have slowly progressive muscle weakness and spasticity. In rare cases, some individuals may have a complex form associated with seizures, ataxia, memory impairment, cognitive decline and dementia. [flybase.org]

• 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]

• Leg Cramp

  These symptoms can include: Leg cramps Paresthesia Muscle spasms Highly arched feet Bladder control problems Relatively mild muscle wasting Diminished vibration sense in the feet Ankle clonus or abnormal reflex movements of the foot While it is less common [disabled-world.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]

• Leg Weakness

  “Paraparesis” indicates weakness in both legs of lesser severity than paraplegia. [rarediseases.org]

• 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]

• Aggressive Behavior

  behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Agitation 0000713 Apathy Lack of feeling, emotion, interest 0000741 Autosomal dominant inheritance 0000006 Degeneration of the lateral corticospinal tracts 0002314 Dementia Dementia [rarediseases.info.nih.gov]

• Incontinence

  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]

  0000752 Neonatal hyperbilirubinemia 0003265 Nocturia 0000017 Sensorineural hearing impairment 0000407 Spastic paraplegia 0001258 Upper limb spasticity Uncontrollable movement in upper arms 0006986 Urinary hesitancy Difficulty with flow 0000019 Urinary incontinence [rarediseases.info.nih.gov]

• 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]

• Seizure

  Epileptic seizures were found not only in the proband but also in a 24 year old sister, who presented only two generalized seizures. [slideheaven.com]

  In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. [rarediseases.info.nih.gov]

  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]

  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]

• 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]

• Clonus

  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]

  Showing of 18 | 5%-29% of people have these symptoms Ataxia 0001251 Parkinsonism 0001300 Percent of people who have these symptoms is not available through HPO Ankle clonus Abnormal rhythmic movements of ankle 0011448 Autosomal dominant inheritance 0000006 [rarediseases.info.nih.gov]

  These symptoms can include: Leg cramps Paresthesia Muscle spasms Highly arched feet Bladder control problems Relatively mild muscle wasting Diminished vibration sense in the feet Ankle clonus or abnormal reflex movements of the foot While it is less common [disabled-world.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]