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]

• Respiratory Distress

  distress (CHNRD) [MIM: 610978 ] NKX2-5 P52952 pleiotropic Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM: 108900 ] Hypoplastic left heart syndrome 2 (HLHS2) [MIM: 614435 ] Hypothyroidism, congenital, non-goitrous [sbg.bio.ic.ac.uk]

  distress (SMARD1) IGHMBP2 Spinale Muskelatrophie (SMA) SMN1 Spinale und bulbäre Muskelatrophie Kennedy AR Spinocerebelläre Ataxie SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 Spondylocostal dysostosis (AR) DLL3 Spondyloepiphyseal dysplasia with congenital joint [meduniwien.ac.at]

  Infant (Neonatal) Respiratory Distress Syndrome (IRDS or NRDS) = Surfactant Deficiency • In premature infants (e.g. born at 7 months of pregnancy), development of alveolar cells producing surfactant is not yet complete and surfactant production is absent [quizlet.com]

  distress, and dysphagia, early-onset, mild variant 614399 612453 Autosomal recessive METTL23 17q25.1 Mental retardation, autosomal recessive 44 615942 615262 Autosomal recessive MFN2 1p36.22 Charcot-Marie-Tooth disease, axonal, type 2A2A 609260 608507 [mnglabs.com]

• Muscle Weakness

  weakness Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Peripheral neuropathy 0009830 Peripheral Schwannoma 0009593 Short foot Short feet Small feet [ more ] 0001773 Spastic paraplegia 0001258 Upper limb [rarediseases.info.nih.gov]

  Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. [icdlist.com]

  The most 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 [ghr.nlm.nih.gov]

  progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings. [flybase.org]

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

• Muscular Atrophy

  atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21 Amyotrophic lateral sclerosis G12.22 Progressive bulbar palsy G12.23 Primary [icd10data.com]

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

  […] recessive SMN1 5q13.2 Spinal muscular atrophy-3 253400 600354 Autosomal recessive SMN1 5q13.2 Spinal muscular atrophy-2 253550 600354 Autosomal recessive SMN2 5q13.2 {Spinal muscular atrophy, type III, modifier of} 253400 601627 Autosomal recessive SMPD1 [mnglabs.com]

• Muscle Spasm

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

  Other common symptoms include urinary urgency and frequency, hyperactive tendon reflexes, diminished vibration and position sense in the feet, leg paresthesias, muscle spasms, cramps, and pain. Muscles can atrophy at a late stage. [encyclopedia.com]

  Tightness in the legs and leg muscle spasm (often at night) are not uncommon. The consequences of abnormal walking pattern cause strain on the ankles, knees, hips, and back and often cause pain in these areas. [rarediseases.org]

• Muscle Cramp

  Other findings include muscle fasciculations, muscle cramps, and lability of affect but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. [aetna.com]

  cramps 611773 120130 Autosomal dominant COL4A1 13q34 {Hemorrhage, intracerebral, susceptibility to} 614519 120130 COL4A1 13q34 Porencephaly 1 175780 120130 Autosomal dominant COL4A1 13q34 Brain small vessel disease with or without ocular anomalies 607595 [mnglabs.com]

• Foot Deformity

  In case of prominent distal weakness affecting foot dorsiflexion it is reasonable to use ankle-foot orthoses. Secondary deformities such as scoliosis, tendon contractures and foot deformities may require surgical management. [scielo.br]

• Psychomotor Retardation

  Claes-Jensen XL 47 55 KIAA0196 Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome) AD/AR 15 18 KIF1A Spastic paraplegia, Neuropathy, hereditary sensory, Mental retardation AD/AR 63 42 KIF5A Spastic paraplegia AD 18 62 L1CAM Mental retardation [blueprintgenetics.com]

  retardation; the late childhood form causes poor coordination, gait and language acquisition disorders, and gelastic cataplexy; the juvenile form causes ataxia, epilepsy, cataplexy, and poor school performance; and the adult form causes psychiatric disorders [elsevier.es]

• 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]

• 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]

• Lower Extremity Spasticity

  Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. [medicbind.com]

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

  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. [icd10data.com]

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

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]