Acronym SPG20 Synonyms Spastic paraparesis childhood-onset with distal muscle wasting Spastic paraplegia autosomal recessive Troyer type Troyer syndrome TRS Keywords Any medical or genetic information present in this entry is provided for research, educational [uniprot.org]

His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them. [books.google.com]

The risk of an individual inheriting the abnormal gene depends on the mode of transmission and whether the mutated gene is present on a sex chromosome or an autosome. [encyclopedia.com]

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

Mol Cell Probes. 2015; 29 :315–8. [ PubMed : 26003402 ] Chapter Notes Author History Emma Baple, MBBS, MRCPCH, PhD (2019-present) Andrew Crosby, PhD (2004-present) Gaurav Harlalka, MRes; University of London (2011-2019) Heema Patel, PhD; University of [ncbi.nlm.nih.gov]

• Short Stature

  SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. [uniprot.org]

  The cardinal features of Troyer syndrome include developmental delay, spastic paraparesis, dysarthria, distal amyotrophy, and short stature. [ncbi.nlm.nih.gov]

  All the patients presented with short stature and dysarthria, and were delayed in reaching motor and cognitive developmental milestones. They all had some difficulties in walking, with clumsy, mildly spastic gait. [cags.org.ae]

  SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

  stature Decreased body height Small stature [ more ] 0004322 Slurred speech 0001350 Spastic dysarthria 0002464 Spastic paraparesis 0002313 Specific learning disability 0001328 Upper limb muscle weakness Decreased arm strength Weak arm [ more ] 0003484 [rarediseases.info.nih.gov]

• Difficulty Walking

  An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. [icdlist.com]

  walking Difficulty in walking 0002355 Drooling Dribbling 0002307 Dysarthria Difficulty articulating speech 0001260 Dysmetria Lack of coordination of movement 0001310 Epiretinal membrane 0100014 Flexion contracture Flexed joint that cannot be straightened [rarediseases.info.nih.gov]

  Balance difficulty, often worse when walking in the dark or on uneven surfaces is not uncommon in individuals with HSP. Tightness in the legs and leg muscle spasm (often at night) are not uncommon. [rarediseases.org]

  Progressive difficulty walking is the main problem and occurs due to taut and weak muscles. This manifests initially as stumbling, stubbing the toe, catching of the feet on uneven surfaces and sidewalks, clumsy gait, or difficulty with balance. [encyclopedia.com]

• Hypersomnia

  […] myotonia o Eyes subcapsular cataract o Endocrine: hypogonadism, insulin resistance, balding o Resp: hypercapnia, sleep apnea o Cardiac arythmias: cardiomyopathy o GI decreased motility, meagcolon o Skin: calcifying epithelioma o Cognitive problems, hypersomnia [quizlet.com]

  Migraine ( Familial hemiplegic ) · Cluster · Tension Cerebrovascular TIA ( Amaurosis fugax, Transient global amnesia Acute aphasia ) Stroke ( MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke ) Sleep disorders Insomnia · Hypersomnia [psychology.wikia.com]

• Malaise

  Clinical features may be non-specific and include lethargy and malaise, or reflect target organ damage and present with abnormal liver tests, cirrhosis, diabetes mellitus, arthropathy, cardiomyopathy, skin pigmentation and gonadal failure. [aetna.com]

• Chills

  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]

• Hoarseness

  […] voice Hoarseness Husky voice [ more ] 0001609 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ [rarediseases.info.nih.gov]

  Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 608568 Autosomal dominant MYH14 19q13.33 Deafness, autosomal dominant 4A 600652 608568 Autosomal dominant MYH2 17p13.1 Proximal myopathy and ophthalmoplegia 605637 160740 Autosomal recessive [mnglabs.com]

• Dysphagia

  Surveillance: Neurologic and developmental/cognitive assessments; monitoring for dysphagia to reduce the risk of aspiration. [ncbi.nlm.nih.gov]

  Less common features include difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal curvature of the spine (scoliosis), and involuntary movements of the eyes (nystagmus). [icdlist.com]

  […] language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysphagia [rarediseases.info.nih.gov]

  She showed saccadic eye pursuit, dysarthria, dysphagia, limb muscle weakness, extensor plantar reflexes, limb and truncal ataxia, and urinary incontinence. [nature.com]

  613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEGF10 5q23.2 Myopathy, areflexia, respiratory distress, and dysphagia [mnglabs.com]

• Failure to Thrive

  […] to thrive, immunocompetence, family history, and trend toward worsening or improvement. [aetna.com]

• Constipation

  0001317 Abnormal hand morphology Abnormal shape of hand 0005922 Babinski sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Constipation [rarediseases.info.nih.gov]

• Genu Valgum

  0030084 Distal amyotrophy Distal muscle wasting 0003693 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Emotional lability Emotional instability 0000712 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Genu [rarediseases.info.nih.gov]

• Long Arm

  Other CMT Type I patients (CMT Type IB) exhibit an abnormality (Duffy locus) in the proximal long arm of chromosome number 1 (band 1q21-22). Presently, no test is available for the dominant CMTIB gene on chromosome 1. [aetna.com]

• Low Set Ears

  ears Low set ears Lowset ears [ more ] 0000369 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Occasional neurofibromas 0009595 Panic [rarediseases.info.nih.gov]

• Mood Swings

  swings and mood disorders, causing inappropriate euphoria and/or crying, are common. [3] Other features can include drooling; exaggerated reflexes (hyperreflexia) in the legs; uncontrollable movements of the arms and legs (choreoathetosis); skeletal [rarediseases.info.nih.gov]

• Hypertelorism

  The most common physical features among the patients were relative hypertelorism and overgrowth of the maxilla leading to overbite, hand and feet anomalies such as brachydactyly (5/6 patients), hammer toes, and pes cavus. [cags.org.ae]

  0000750 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dysuria Painful or difficult urination 0100518 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hypertelorism [rarediseases.info.nih.gov]

  […] bicuspid aortic valve and patent ductus arteriosus, blue sclerae, camptodactyly, cerebral, thoracic or abdominal arterial aneurysms and/or dissections, cleft palate/bifid uvula, club feet, craniosynostosis, easy bruising, joint hypermobility, ocular hypertelorism [aetna.com]

• Dysuria

  […] development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dysuria [rarediseases.info.nih.gov]

• Dysarthria

  SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. [uniprot.org]

  The cardinal features of Troyer syndrome include developmental delay, spastic paraparesis, dysarthria, distal amyotrophy, and short stature. [ncbi.nlm.nih.gov]

  All the patients presented with short stature and dysarthria, and were delayed in reaching motor and cognitive developmental milestones. They all had some difficulties in walking, with clumsy, mildly spastic gait. [cags.org.ae]

  […] common characteristics of Troyer syndrome are spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria [ghr.nlm.nih.gov]

  SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

• Hyperreflexia

  People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [icdlist.com]

  Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, and a bending outward (valgus) of the knees. [ghr.nlm.nih.gov]

  […] hands and feet; paraplegia ; leg contractures ; learning disorders; and short stature. [2] [3] [1] Mood swings and mood disorders, causing inappropriate euphoria and/or crying, are common. [3] Other features can include drooling; exaggerated reflexes (hyperreflexia [rarediseases.info.nih.gov]

  The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric. Dysarthria and bladder dysfunction are often present. [disorders.eyes.arizona.edu]

  […] spastic paraplegia 2017 Billable/Specific Code Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia [medicbind.com]

• Stroke

  Showing 1-10 of 86 references The effects of peroneal nerve functional electrical stimulation versus ankle-foot orthosis in patients with chronic stroke: a randomized controlled trial [pdfs.semanticscholar.org]

  ORGANIZATIONS National Institutes of Health /National Institute of Neurological Disorders and Stroke Brain Resources and Information Network. 9000 Rockville Pike, Bethesda, MD 20892. (301) 496 5751. (April 4, 2005.). [encyclopedia.com]

  ( MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke ) Sleep disorders Insomnia · Hypersomnia · Sleep apnea ( Obstructive, Ondine's curse ) · Narcolepsy · Cataplexy · Kleine-Levin · Circadian rhythm sleep disorder [psychology.wikia.com]

  National Institute of Neurological Disorders and Stroke (NINDS) PO Box 5801 Bethesda MD 20824 Phone: 800-352-9424 (toll-free); 301-496-5751; 301-468-5981 (TTY) Spastic Paraplegia Foundation, Inc. 7700 Leesburg Pike Ste 123 Falls Church VA 22043 Phone: [ncbi.nlm.nih.gov]

  Focal muscle vibration in the treatment of upper limb spasticity: a pilot randomized controlled trial in patients with chronic stroke. Arch Phys Med Rehabil. 93(9):1656-61. 2012. ^. Casale R1, Damiani C, Maestri R, Fundarò C, Chimento P, Foti C. [en.wikipedia.org]

• Tremor

  […] the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic shaking (tremor [ghr.nlm.nih.gov]

  ( Essential tremor, Intention tremor ) · Restless legs · Stiff person Dementia Tauopathy : Alzheimer's ( Early-onset ) Primary progressive aphasia · Frontotemporal dementia / Frontotemporal lobar degeneration ( Pick's, Dementia with Lewy bodies ) Multi-infarct [psychology.wikia.com]

  Rarely, spastic paraplegia type 15 is associated with a group of movement abnormalities called parkinsonism, which includes tremors, rigidity, and unusually slow movement (bradykinesia). [icdlist.com]

  […] syndrome does occur, although it is more common for patients also to present symptoms secondary to the involvement of other systems, such as intellectual disability, cognitive impairment, epilepsy, movement disorders (dystonia, chorea, parkinsonism, tremor [elsevier.es]

  […] feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia, extensor plantar responses Extrapyramidal signs: mild choreoathetoid movements Cerebellar signs: dysdiadochokinesia, mild intention tremor [ncbi.nlm.nih.gov]

• Spastic Gait

  They all had some difficulties in walking, with clumsy, mildly spastic gait. [cags.org.ae]

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

  Most affected children have delays in walking and talking, followed by slow deterioration in both manner of walking (gait) and speech. [3] Affected people have progressive muscle weakness and stiffness ( spasticity ) in the legs; muscle wasting in the [rarediseases.info.nih.gov]

  Keywords Hereditary Spastic Paraplegia Spastic Paraparesis Primary Lateral Sclerosis Spastic Gait Hereditary Spastic Paraparesis These keywords were added by machine and not by the authors. [link.springer.com]

  Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]

While this adds considerable challenges in the diagnostic workup, certain specific complicating features may guide the differential diagnosis between the different HSPs. [scielo.br]

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]

There are currently no treatments known to prevent or slow the progression of Troyer syndrome. [1] Treatment aims to relieve symptoms of the disease and improve quality of life. [rarediseases.info.nih.gov]

There are no specific treatments. Both symptomatic treatment used for spasticity, such as muscle relaxants, and supportive medical management could be helpful. Oman Manzini et al. (2010) reported two related Omani families with Troyer syndrome. [cags.org.ae]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment Treatment Options: No effective treatment is known for the neurological deficits but cataract surgery may be beneficial for visually significant cataracts. [disorders.eyes.arizona.edu]

Treatments are directed at reducing symptoms, maintaining mobility, and improving balance, strength, and agility. [ncbi.nlm.nih.gov]

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]

Last updated: 12/8/2015 Troyer syndrome is progressive, causing a gradual decline of muscle and nerve function. [2] Affected people become more impaired as they age. [2] However, long-term outlook ( prognosis ) can vary because some have a mild form of [rarediseases.info.nih.gov]

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 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]

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]

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]

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992; 51: 1218-1228 24 Carelli V, La Morgia C, Valentino ML. et al. [thieme-connect.com]

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

In addition to clearly familial cases, a significant proportion of patients with sporadic spastic paraplegia also have a genetic etiology. [scielo.br]

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

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

Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology 2013;41:118-130. [ Links ]. Vanacore N, Bonifati V, Fabbrini G, et al. Epidemiology of multiple system atrophy. [scielo.br]

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]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [elsevier.es]

Pathophysiology HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns 35. [scielo.br]

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]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

These compounds are useful tools in basic biomedical research and may be further developed for the treatment, prevention, or diagnosis of disease. [leibniz-fmp.de]

Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores. [encyclopedia.com]

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]

There are currently no treatments known to prevent or slow the progression of Troyer syndrome. [1] Treatment aims to relieve symptoms of the disease and improve quality of life. [rarediseases.info.nih.gov]