Presentation
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]
Entire Body System
- 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]
- Swelling
pop sound -> immediate swelling (hemarthrosis) because vascular ANTERIOR COMPARTMENT SYNDROME Pressure in compartment increases due to infection, edema, bleeding, muscle swelling, compromised venous and lymphatic drainage - all leading to ischemia. [quizlet.com]
Tarrade A, Fassier C, Courageot S, et al. (2006) A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Human Molecular Genetics 15: 3544–3558. [els.net]
Histological analysis of the spinal cord showed axonal swelling, particularly in the lateral columns of the lumbar spinal cord, consistent with a retrograde axonopathy. [24] SPG8 603563 KIAA0196 8q24.13 Autosomal dominant SPG9 601162 SPG9 10q23.3–q24.1 [psychology.wikia.com]
Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice. Dis Model Mech 2013;6:72-83. [ Links ]. Hedera P, Eldevik OP, Maly P, Rainier S, Fink JK. [scielo.br]
Musculoskeletal
- 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]
Neurologic
- 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 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]
- Dysmetria
[…] finger or toe 0012385 Cerebellar atrophy Degeneration of cerebellum 0001272 Childhood onset Symptoms begin in childhood 0011463 Difficulty walking Difficulty in walking 0002355 Drooling Dribbling 0002307 Dysarthria Difficulty articulating speech 0001260 Dysmetria [rarediseases.info.nih.gov]
The role of the cerebellum in cognition and emotion: personal reflections since 1982 on the dysmetria of thought hypothesis, and its historical evolution from theory to therapy. Neuropsychol Rev, 20 (2010), pp. 236-260 [6] E. D’Angelo, S. Casali. [elsevier.es]
Cerebellar signs were present in 4 patients (family I) and consisted of a dysarthric cerebellar speech, dysmetria, and abnormal rapid alternating movements in the upper extremities. [ajnr.org]
A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]
Moderate truncal ataxia was present with bilateral dysmetria and dysdiadochokinesia. It was not possible to assess cerebellar function in the legs due to weakness. [journals.plos.org]
- Cerebellar Sign
hyperreflexia, extensor plantar responses Extrapyramidal signs: mild choreoathetoid movements Cerebellar signs: dysdiadochokinesia, mild intention tremor Skeletal abnormalities: pes cavus, mild talipes equinovarus, kyphoscoliosis Mild to moderate intellectual [ncbi.nlm.nih.gov]
Cerebellar signs were present in 4 patients (family I) and consisted of a dysarthric cerebellar speech, dysmetria, and abnormal rapid alternating movements in the upper extremities. [ajnr.org]
On the other hand, HSP is classified as complex or complicated when associated with other neurological signs, including ataxia, mental retardation, dementia, extrapyramidal signs, visual dysfunction or epilepsy, or with extraneurological signs. [psychology.wikia.com]
A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]
There were subtle cerebellar signs in the upper limbs and mild cerebellar dysarthria. Ophthalmological examination showed normal retinal and macular findings, but visual acuity was 0.3–0.5. [journals.plos.org]
Workup
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]
Treatment
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
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]
Etiology
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]
Epidemiology
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
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]
Prevention
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]