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Autosomal Recessive Spastic Paraplegia Type 49


Presentation

  • Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67(9):1701-3. Schneider SA, Walker RH, Bhatia KP.[books.google.com]
  • Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings.[jnnp.bmj.com]
  • Acronym SPG49 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • When present, weakness does not affect all leg muscles, but rather is most obvious in muscles of hip flexion (iliopsoas), hip abduction (gluteus medius), knee flexion (hamstrings), and foot dorsiflexsion (bending the foot back toward the shin via tibialis[rarediseases.org]
  • Therefore, we present non-adjusted prevalence rates in order to increase comparability between studies.[karger.com]
Short Stature
  • […] of Dental Crowding : 15q Overgrowth Syndrome 2q32q33 Microdeletion Syndrome 3Mc Syndrome 1 3q29 Microdeletion Syndrome Achondroplasia Acrocephalopolysyndactyly Type III Alpha-Thalassemia / Mental Retardation Syndrome, Chromosome 16-Related Asymmetric Short[familydiagnosis.com]
  • stature and fibular hypoplasia Gay Feinmesser Cohen syndrome Lipoic acid synthetase deficiency Saito Kuba Tsuruta syndrome PARC syndrome Bone dysplasia lethal Holmgren type Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome[checkrare.com]
  • He manifests a short stature and mild macrocephalus. Initially, gait disturbance in the patient was noted by his younger brother. Seven years later, maximum walking distance with assistance was about 300-500 meter. By now, he is wheelchair-bound.[omicsonline.org]
  • This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior hairline, dental crowding, short broad neck, mild brachycephalic microcephaly,[intechopen.com]
  • Symptoms vary from person to person but typically include delayed walking, balance problems, muscle stiffness (spasticity) and weakness in the legs, developmental delay with intellectual disability, distinct facial features, and short stature.[natera.com]
Movement Disorder
  • She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London.[books.google.com]
  • Movement Disord 2016; 31: S227-S.[hih-tuebingen.de]
  • Movement Disorders, 17(3), 585-589. [More Information] Nicholson, G., Ouvrier, R. (2002). GDAP1 mutations in CMT4: Axonal and demyelinating phenotypes?: The exception ?proves. Neurology,, 1835-1836.[sydney.edu.au]
  • Movement Disorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC.[en.wikipedia.org]
  • Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with stiff-person syndrome and other movement disorders.[ncbi.nlm.nih.gov]
Swelling
  • […] muscle atrophy Patellar Tendon Reflex (PTR) Achilles Tendon Reflex (ATR) Babinski sign Vibration sense Normal Normal Sphincter involvement Mini-Mental State Examination (MMSE) 16/30 25/30 Lower limb NCV FWCV decreased Decreased Sural nerve biopsy Axonal swelling[intechopen.com]
  • Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. Journal of Neurology, Neurosurgery and Psychiatry, 68, 483-488. [More Information][sydney.edu.au]
Vietnamese
  • Initial testing of the RIM-8H was performed in 1965, and soon after it was deployed in Vietnam on Chicago , Oklahoma City , and Long Beach , attacking North Vietnamese SAM radars.[ipfs.io]
Hoarseness
  • […] disease Ataxia-oculomotor apraxia type 1 49,XXXXX syndrome Bardet-Biedl syndrome Radial hypoplasia, triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness[checkrare.com]
Hypertension
  • " risk for hypertension.[aetna.com]
  • […] dysplasia x-linked with mental deterioration Limb-girdle muscular dystrophy Palmoplantar keratoderma-sclerodactyly syndrome Limb-body wall complex Lopes Gorlin syndrome Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension[checkrare.com]
Vascular Disease
  • CADASIL CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare, genetically inherited, congenital vascular disease of the brain that causes strokes, subcortical dementia, migraine-like headaches,[aetna.com]
Aniridia
  • […] syndrome Iniencephaly Congenital diaphragmatic hernia Duodenal atresia Spondylometaphyseal dysplasia with dentinogenesis imperfecta Pseudoachondroplasia Spastic paraplegia 12 Homocystinuria due to CBS deficiency Cardioauditory syndrome of Sanchez Cascos Aniridia[checkrare.com]
Withdrawn
  • Type Surface-to-air missile Place of origin United States Service history In service Withdrawn from service 1980 Used by United States Navy Production history Manufacturer Bendix Produced 1958 Specifications Weight 7,800 lb (3,538 kg) (missile: 3,400[ipfs.io]
Round Face
  • This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior hairline, dental crowding, short broad neck, mild brachycephalic microcephaly,[intechopen.com]
Spastic Gait
  • 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]
  • SPG7 mutations are a frequent cause of middle-aged onset of spastic gait when strict inclusion criteria are applied and should, therefore, be tested in autosomal recessive or sporadic hereditary spastic paraplegia.[antikoerper-online.de]
  • Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A[centogene.com]
  • 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]
Dysmetria
  • 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]
Areflexia
  • West syndrome Achondroplasia and Swiss type agammaglobulinemia Anterior segment mesenchymal dysgenesis Harlequin syndrome Microcoria, congenital Pseudoxanthoma elasticum, forme fruste Laurin-Sandrow syndrome Spinocerebellar ataxia 34 Cerebellar ataxia, areflexia[checkrare.com]
Personality Change
  • Some people with this condition have milder symptoms that start in the teen years or early adulthood and may include behavior and personality changes, hallucinations, mental illness, and decline in memory and skills.[natera.com]

Workup

  • 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

  • Upon obtaining the gene test results, it is possible to apply specific treatment, to perform screening for the mutations within family or population of affected patients, and in general, to improve patient’s quality of life.[ncbi.nlm.nih.gov]
  • Lifelong treatment with biotin supplementation can prevent the symptoms from occurring. With early diagnosis and treatment with biotin, people with Holocarboxylase Synthetase Deficiency can live healthy lives.[natera.com]
  • HSP cannot be prevented, slowed or reversed, but treatments can relieve some of the symptoms and help the person manage day-to-day activities.[campbellspharmacy.co.uk]
  • 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 [ 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]

Prognosis

  • 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 [ 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]
  • Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture.[jnnp.bmj.com]
  • The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis.[aetna.com]

Etiology

  • Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med.[books.google.com]
  • Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology.[oxfordmedicine.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]
  • Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA.[wjgnet.com]
  • Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology.[aetna.com]

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]
  • 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]
  • The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ].[wjgnet.com]
  • This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP.[academic.oup.com]
  • Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry, 84(8), 931-935.[sydney.edu.au]
  • Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA.[aetna.com]

Prevention

  • HSP cannot be prevented, slowed or reversed, but treatments can relieve some of the symptoms and help the person manage day-to-day activities.[campbellspharmacy.co.uk]
  • 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]
  • The side lobe suppression (SLS) receiver horn was added to prevent a hostile decoy from deceiving the receiver by transmitting a false target signal into a side lobe of the tracking receiver antenna.[okieboat.com]
  • While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young.[aetna.com]

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