Presentation
Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of HSP that presents in early childhood. [cags.org.ae]
He was awarded the 1st Distinguished Neurology Alumnus Award of the Neurological Institute; Columbia University Medical Center; 1994.He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present [books.google.com]
HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis. [journals.lww.com]
[…] of life [ 6 ] but milder variations may not present until childhood. [patient.info]
Presentation on theme: "Spinal chord. [slideplayer.com]
Entire Body System
- Amyloidosis
cerebroarterial Amyloidosis, cerebroarterial, Britisch type Amyloidosis, cerebroarterial, Danish type Amyloidosis, cerebroarterial, Dutch type Amyloidosis, cerebroarterial, Icelandic type Aniridia-Wilms-tumor syndrome Antenatal Bartter syndrome type [moldiag.com]
Familial transthyretin amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. [centogene.com]
Genetic Testing - Amyloidosis (Amyloidosis) - Gen SAA1. [ivami.com]
Sotos syndrome 3 617169 612034 Autosomal recessive APOA1 11q23.3 Hypoalphalipoproteinemia 604091 107680 APOA1 11q23.3 Amyloidosis, 3 or more types 105200 107680 Autosomal dominant APOA2 1q23.3 {Hypercholesterolemia, familial, modifier of} 143890 107670 [mnglabs.com]
Shibata Y, Matsushima M, Yabe I, Matsuda K, Nagai A, Kano T, Yamada T, Sekijima Y, Sasaki H Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 24(1) 66-67 2017 [researchmap.jp]
- Hodgkin Lymphoma
Genetic Testing - Non-Hodgkin Lymphoma family (Non-Hodgkin lymphoma familial) - Genes RAD54L, CASP10, Rad54B and PRF1. Genetic testing - non-syndromic craniosynostosis Coronal (See Muenke syndrome ...). [ivami.com]
Neurologic
- Hyperreflexia
People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. [ghr.nlm.nih.gov]
[…] spasticity is increased at the hamstrings, quadriceps and ankles Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles difficulty in walking, decreased vibratory sense at the ankles, and paresthesia In lower extremities hyperreflexia [slideshare.net]
Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3. [omicsonline.org]
There is gross spasticity, hyperreflexia and extensor plantar response. In severe cases, the child is unable to sit unsupported and is certainly unable to walk. [patient.info]
- Dysarthria
Other early signs of cerebellar ataxia include dysarthria and nystagmus. The spasticity is progressive and eventually dominates the clinical picture. The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign. [orpha.net]
SPG26 Gene unknown 12p11-q14 Unknown Child onset, complicated:distal amyotrophy cognitive impairment, dysarthria. [scielo.br]
[…] finding of HIV ENCEPHALITIS (Microglial nodule is seen in brain of people with HIV and may be caused by HIV itself or by opportunists as CMV, TOXO) [11] Some points on toxic injury to brain : [a] ALUMINIUM TOXICITY =DIALYSIS ENCEPHALOPATHY SYNDROME= Dysarthria [pguploads.wordpress.com]
[…] experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia) of the lower limbs; speech difficulties (dysarthria [ghr.nlm.nih.gov]
66 dysarthria and mild facial immobility, 40 cardiac disease, 32 epilepsy, 39 and in the Mast syndrome which consists of spastic paraplegia with dementia, dysarthria, and athetosis. 62 Dementia has also been reported in both autosomal dominant and recessive [jnnp.bmj.com]
- Babinski Sign
Other early signs of cerebellar ataxia include dysarthria and nystagmus. The spasticity is progressive and eventually dominates the clinical picture. The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign. [orpha.net]
Showing of 42 | 30%-79% of people have these symptoms Abnormality of jaw muscles 0045037 Ankle contracture 0006466 Babinski sign 0003487 Cough Coughing 0012735 Delayed gross motor development Delayed motor skills 0002194 Difficulty walking Difficulty [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]
[…] may overcome all of the UMN signs Brainstem damage signs disphagia disarthrie sialorrhea (reduction of swallowing) laringospasm Lately in the course of disease oculomotor problems 45 Criteriile El Escorial revăzute pentru diagnosticul sclerozei laterale [slideplayer.com]
Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency. [omicsonline.org]
- Lower Extremity Spasticity
Clinical Features Symptoms depend on the type of HSP inherited Main feature >>> progressive spasticity in the lower limbs, due to pyramidal tract dysfunction In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles [slideshare.net]
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]
[…] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]
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]
- Abnormal Gait
They all presented in the first 2 years of life with developmental delay, delayed walking, abnormal gait, and mild to severe mental retardation. They also had spasticity of the lower limbs, and a very thin corpus callosum. [cags.org.ae]
[…] disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hyperreflexia Increased reflexes 0001347 Lower limb muscle weakness Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Pes cavus High-arched [rarediseases.info.nih.gov]
Many mutated genes are linked to abnormal lipid metabolism. [en.wikipedia.org]
At the extremes are asymptomatic patients with pyramidal signs in the lower limbs with a normal or only slightly abnormal gait and a few patients who are chairbound or bedridden. 71 94 There is marked variability in the age at onset of symptoms in chromosome [jnnp.bmj.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
37 Treatment Physical therapy Nerve and muscle trophic drugs Treatment of complications Treatment of heart disorders 38 Lateral Amiotrophic Sclerosis 39 Lateral Amiotrophic Sclerosis (ALS) Degenerative disease of the central nervous system Degeneration [slideplayer.com]
Management and treatment Treatment is symptomatic aiming towards controlling the spasticity and should include physiotherapy, pharmacotherapy and use of ankle-foot orthoses. Prognosis Most patients become wheelchair-bound by the 5th decade of life. [orpha.net]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Treatment 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 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]
Prognosis
SPG2 - these patients tend to have a normal lifespan. [ 6 ] There may appear to be periods of stability but the prognosis is for gradual deterioration. [patient.info]
Prognosis Most patients become wheelchair-bound by the 5th decade of life. Death generally occurs during the sixth decade but survival into the seventies has been reported. [orpha.net]
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]
Etiology
Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]
Etiology ARSACS is caused by autosomal recessive mutations in the SACS gene (13q11), which encodes a large protein of unknown function named sacsin. [orpha.net]
The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [genecards.org]
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]
Epidemiology
Consequently, they are often approached together in epidemiological studies. [karger.com]
Summary Epidemiology It was initially described in the Charlevoix-Saguenay region of Quebec where incidence of ARSACS at birth has been estimated at 1 in 1,932. [orpha.net]
Relevant External Links for SPG11 Genetic Association Database (GAD) SPG11 Human Genome Epidemiology (HuGE) Navigator SPG11 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SPG11 No data available for Genatlas for SPG11 Gene Mutations in [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]
Pathophysiology
The group led by Giovanni Stevanin, INSERM/EPHE researcher, within the team of Alexis Brice at the ICM, has been working for the last several years on studying the genetic and pathophysiological mechanisms implicated in these disorders, and has already [icm-institute.org]
See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively [mayomedicallaboratories.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]
Prevention
Treatment 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 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]
This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]
There is no treatment that can prevent or reverse nerve degeneration in HSP. Oman Al-Yahyaee et al. (2006) described two families diagnosed with autosomal recessive hereditary spastic paraplegia. [cags.org.ae]
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]