Edit concept Question Editor Create issue ticket

Autosomal Recessive Spastic Paraplegia Type 20

Troyer Syndrome


  • 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]
  • 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]
  • Babinski sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [3] This gene gives the body instructions to make a protein called spartin, which is present[rarediseases.info.nih.gov]
  • 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]
Short Stature
  • The cardinal features of Troyer syndrome include developmental delay, spastic paraparesis, dysarthria, distal amyotrophy, and short stature.[ncbi.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]
  • SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.[mybiosource.com]
  • 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]
Difficulty Walking
  • An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally.[icdlist.com]
  • The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis.[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]
  • Most patients present with difficulty walking or gait disturbance, noticed either by themselves or a relative. In those with childhood onset, a delay in walking is not uncommon.[jnnp.bmj.com]
  • (Met122ValfsTer2) in Omani, Turkish, and Filipino families [ Manzini et al 2010, Tawamie et al 2015, Butler et al 2016 ], a homozygous nonsense variant c.1369C T (p.Arg457Ter) in a Moroccan family [ Dardour et al 2017 ], and a homozygous 1-nucleotide[ncbi.nlm.nih.gov]
Poor Feeding
  • Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular face shape, and poor feeding.[ncbi.nlm.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]
Mitral Valve Prolapse
  • Troyer syndrome shares some features with ARSACS ( a utosomal r ecessive s pastic a taxia of C harlevoix- S aguenay); however, nystagmus, abnormalities of ocular movement, and mitral valve prolapse are not features of Troyer syndrome.[ncbi.nlm.nih.gov]
  • Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the[aetna.com]
Small Hand
  • In the more severely affected, generally older, individuals, weakness of the small hand muscles was observed. Most individuals had mild weakness of the abductor pollicis brevis, abductor digiti minimi, and palmar and dorsal interossei.[ncbi.nlm.nih.gov]
  • 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]
  • […] stature Emotional lability Additional clinical features At birth: low/low-normal birth weight, relative macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia[ncbi.nlm.nih.gov]
  • People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control.[icdlist.com]
  • 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]
Lower Extremity Spasticity
  • extremity spasticity and weakness.[flybase.org]
  • 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]
  • Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease.[reference.md]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
Spastic Gait
  • They all had some difficulties in walking, with clumsy, mildly spastic gait.[cags.org.ae]
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years.[en.wikipedia.org]
  • 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]
  • Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus collasum in spastic gait gene 11 (SPG11). Arch Neurol 2004 ; 61 : 117 –21 Ohnishi J, Tomoda Y, Yokoyama K.[ajnr.org]
  • 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]
Cerebellar Sign
  • Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Emotional lability / difficulty in controlling emotions and affective disorders, such as inappropriate euphoria and/or crying, are frequently described.[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]
  • 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]
Babinski Sign
  • sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [3] This gene gives the body instructions to make a protein called spartin, which is present[rarediseases.info.nih.gov]
  • Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign.[journals.plos.org]
  • Signs Loosing connections between motor and 2.[quizlet.com]
  • sign, and scoliosis; within 10 to 15 years of onset, patients have to use wheelchairs. 22 In addition to axonal sensory polyneuropathy, auditory and optic neuropathy are also frequently observed.[elsevier.es]


  • 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]
Excessive Drooling
  • Excessive drooling is commonly observed in childhood and persists into adulthood in the most severely affected individuals.[ncbi.nlm.nih.gov]


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


  • 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 [ 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 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]
  • A meta-analysis of the association between different genotypes ( G11778A, T14484C and G3460A ) of Leber hereditary optic neuropathy and visual prognosis.[thieme-connect.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]
  • In addition to clearly familial cases, a significant proportion of patients with sporadic spastic paraplegia also have a genetic etiology.[scielo.br]
  • MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues.[journals.plos.org]


  • 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]
  • 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]
  • 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]
Sex distribution
Age distribution


  • 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]


  • 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]
  • 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]
  • […] or absence of emotional lability Physical examination for skeletal abnormalities and x-ray examination for kyphoscoliosis as needed Consultation with a clinical geneticist and/or genetic counselor Treatment of Manifestations No specific treatment to prevent[ncbi.nlm.nih.gov]
  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!