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]

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]

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]

Dysarthria and bladder dysfunction are often present. Cerebellar ataxia is common and some patients first present with this as a prominent sign in the first and second decades. [disorders.eyes.arizona.edu]

• 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. [uniprot.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]

• Turkish

  (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]

• Delayed Speech Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

• 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]

• 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]

• 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]

• Fear

  […] morphology Abnormality of the thumb Abnormality of the thumbs Thumb deformity [ more ] 0001172 Abnormality of the nares Abnormality of the nostrils 0005288 Ankle clonus Abnormal rhythmic movements of ankle 0011448 Anxiety Excessive, persistent worry and fear [rarediseases.info.nih.gov]

• Hyperreflexia

  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]

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

  […] 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]

• 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

  […] by progressive, usually severe, lower 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]

  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. [reference.md]

  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]

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]

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]

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]

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]

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]

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]