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Autosomal Dominant Spastic Paraplegia Type 42

Autosomal Dominant Spastic Paraplegia 42


Presentation

  • Autosomal dominant spastic paraplegia type 42 Disease definition A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting[orpha.net]
  • At present, 18 loci have been linked to ADHSP, and 9 genes have been identified.[nature.com]
  • Acronym SPG42 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • As our sample represents ADHSP patients for which SPAST-mutations and almost in all cases ATL1- and REEP1-mutations had been excluded, we consider SLC33A1-gene mutations as very rare in a European ADHSP cohort if present at all.[hal.archives-ouvertes.fr]
  • As our sample represents ADHSP patients for whom SPAST mutations and almost in all cases ATL1 and REEP1 mutations had been excluded, we consider SLC33A1 gene mutations as being very rare in a European ADHSP cohort, if present at all.[ncbi.nlm.nih.gov]
Muscle Spasm
  • Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.[malacards.org]
Muscle Spasticity
  • Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes. Spasticity Spasticity is an increase in muscle tone with resulting stiffness.[emedicine.medscape.com]
  • To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity.[els.net]
  • Key words: hereditary spastic paraplegia; spastic paraplegia; muscle spasticity; genetics; mutation RESUMO Paraplegias espásticas hereditárias (PEH) constituem um grupo de desordens geneticamente determinadas caracterizadas por espasticidade e paraparesia[scielo.br]
  • Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy.[link.springer.com]
  • The sum of the point values for spasticity of hip adductor muscles, spasticity of knee flexion, weakness of hip abduction, and weakness of foot dorsiflexion were designated as “spastic subscore”.[ojrd.biomedcentral.com]
Acrocephaly
  • Disorders Alternate Names Genes Inheritance Pattern Saethre-Chotzen Syndrome acrocephaly, ACS III, ACS3, Chotzen syndrome, SCS, syndactyly type III FGFR2, TWIST1 autosomal dominant Sandhoff Disease GM2-gangliosidosis type II HEXB autosomal recessive Sanfilippo[disorders.eyes.arizona.edu]
Incontinence
  • In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.[malacards.org]
  • incontinence at least daily/nightly, while 27.4% needed to urinate more than eight times daily and 51.9% experienced sudden urges to urinate.[emedicine.medscape.com]
Spastic Gait
  • gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus.[orpha.net]
  • HSP3A usually develops in early childhood with more than 80% of affected individuals developing spastic gait before 10 years of age. Later-onset cases are associated with more slowly progressive disease.[flybase.org]
  • 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]
  • Spastic gait was absent in 9%, mild in 27%, and moderate or severe in 32%.[jamanetwork.com]
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years.[ipfs.io]
Babinski Sign
  • Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are babinski sign and degeneration of the lateral corticospinal tracts Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the[malacards.org]
  • The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations.[neurohic.com]
  • 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]
Babinski Sign
  • Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are babinski sign and degeneration of the lateral corticospinal tracts Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the[malacards.org]
  • The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations.[neurohic.com]
  • 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]
Lower Extremity Spasticity
  • extremity spasticity and weakness.[flybase.org]
  • All forms of HSP , complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
  • The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals[centogene.com]
Hyperactivity
  • Because HSP causes deterioration of the corticospinal nerves, the reflex is not reduced as it should be, the result being an exaggerated (ie, hyperactive) reflex and increased muscle tone.[emedicine.medscape.com]
  • Some individuals may develop urinary bladder hyperactivity, axonal neuropathy and/or distal muscle wasting.[flybase.org]
  • None (1997) Genetic influences in childhood-onset psychiatric disorders: autism and attention-deficit/hyperactivity disorder. [ ] 21.[moldiag.com]
  • Introduction The hereditary spastic paraplegias (HSP) are clinically and genetically heterogeneous disorders characterized by the triad of progressive spastic paraparesis, hyperactive bladder and mild sensory dysfunction in the lower limbs [1] – [4].[journals.plos.org]
  • […] dysfunctions no no dysarthria no no Leg Spasticity Muscle contracture - - - - Muscle weakness (MRC scale): Knee flexion 3.5 2.5 2 2 4 Knee extention 3.5 3 2 2 4.5 Ankle flexion 4 3 1.5 2.5 5 Ankle extention 3.5 3.5 1.5 2 5 Toes 3 3 1 1.5 3 Muscle wasting - - Hyperactive[bmcneurol.biomedcentral.com]

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

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • 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]
  • Gilbert directs or participates in a number of single and multi-center studies into causes and treatments of Tourette's syndrome. Dr.[books.google.com]
  • Treatment Treatment Options: No information on treatment has been reported.[disorders.eyes.arizona.edu]

Prognosis

  • Prognosis 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.[ipfs.io]
  • 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]
  • […] inversely correlated with quality of life in a previous study. 31 As the majority of patients in our cohort who met the clinical criteria for HSP did not have a genetic diagnosis, this illustrates the need for studies of clinical parameters which influence prognosis[ng.neurology.org]
  • In complex cases, prognosis is strongly determined by additional manifestations.[scielo.br]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • She divided those with a known etiology (eg, abetalipoproteinemia, ataxia telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia, Ramsay Hunt syndrome, cerebellar ataxia with retinal degeneration).[medlink.com]
  • Risch N et. al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [ ] 26.[moldiag.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]
  • 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]
  • Relevant External Links for SLC33A1 Genetic Association Database (GAD) SLC33A1 Human Genome Epidemiology (HuGE) Navigator SLC33A1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC33A1 No data available for Genatlas for SLC33A1 Gene A[genecards.org]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models.[books.google.com]
  • . • Researchers are rapidly learning about the underlying pathophysiology behind the inherited ataxia syndromes.[medlink.com]
  • 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]
  • The results suggest that inhibited endocytosis is part of the pathophysiological mechanisms leading to HSP in this family.[bmcneurol.biomedcentral.com]

Prevention

  • The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP.[ipfs.io]
  • 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 prevention of neurogenetic disease. Arch Neurol 1995; 52:356-62. [ Links ] Bruyn RPM, Scheltens PH. hereditary spastic paraparesis (Strumpell-Lorrain). En: Vinken PJ, Bruyn GM, Klawans HL, de Jong JMBV, eds. Handbook of Clinical Neurology.[scielo.sld.cu]
  • Diagnosis is also warranted to prevent patients from been submitted to unnecessary diagnostic tests. Patients with pure HSP mostly have a normal life-spam.[scielo.br]
  • Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology.[karger.com]

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