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Inherited Congenital Spastic Tetraplegia

Spastic Quadriplegic Cerebral Palsy


Presentation

  • Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.[orpha.net]
  • Symptoms can present themselves as early as three months but are generally seen before the child reaches two years of age.[en.wikipedia.org]
  • Evidence for global neurologic disease, primarily spasticity, may be present as early as 3 months of age. Intellectual disability ranges from borderline to severe.[disorders.eyes.arizona.edu]
  • Acronym SPG49 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Methods: Sixteen patients from 11 families, originating from North Africa and Europe, who presented severe spastic paralysis and ascending progression were studied.[neurology.org]
Fishing
  • […] problems with balance, co-ordination and speech (ataxia) eye problems – such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy) dementia ichthyosis – a condition that causes widespread and persistent thick, dry, "fish-scale[nhs.uk]
  • During pregnancy, don’t eat fish with high levels of mercury, like swordfish, king mackerel, shark and tilefish. Your baby doesn't get enough oxygen in the womb.[marchofdimes.org]
Flexion Contracture
  • Showing of 13 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Babinski sign 0003487 Cerebral palsy 0100021 Flexion contracture Flexed joint that cannot be straightened 0001371 Global developmental[rarediseases.info.nih.gov]
  • contracture Progressive neurologic deterioration Drooling Athetosis Unsteady gait Emotional lability Peripheral neuropathy Depressivity Delayed myelination Visual loss Brain atrophy Pain Clumsiness Limb muscle weakness Dilated cardiomyopathy Personality[mendelian.co]
Neonatal Seizures
  • seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy, familial temporal lobe MTOR Smith-Kingsmore syndrome PRRT2 Episodic kinesigenic dyskinesia RELN Epilepsy[genda.com.ar]
Neonate-Onset
  • Onset Multisystem Inflammatory Disease Normal Pressure Hydrocephalus OHDO Syndrome Opitz Trigonocephaly Syndrome Ohtahara Syndrome Ouvrier Syndrome Pallister-Killian Mosaic Syndrome Periventricular Leukomalacia Peroxisome Biogenesis Disorder Phelan McDermid[bladderbowel.gov.au]

Workup

  • It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia[hspersunite.org.au]

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]
  • 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 Cerebral palsy can’t be cured, but treatment will often improve a child's capabilities.[childneurologyfoundation.org]
  • Treatment for complications will depend on your child’s symptoms, age, and general health. It will also depend on how serious the condition is. Your child’s healthcare provider will discuss treatment choices with you.[urmc.rochester.edu]
  • Treatment Treatment Options: No treatment has been reported for the general condition.[disorders.eyes.arizona.edu]

Prognosis

  • Prognosis Cerebral palsy doesn’t always cause profound disabilities and for most people with CP the disorder does not affect life expectancy.[childneurologyfoundation.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]

Etiology

  • Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability . Hum Mutat. 2017 Jun;38(6):621-636.[disorders.eyes.arizona.edu]

Epidemiology

  • […] lymphoblastic leukemia Spinocerebellar ataxia type 1 Spondylocarpotarsal synostosis Synonym(s): - Inherited congenital spastic quadriplegia Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for GAD1 Genetic Association Database (GAD) GAD1 Human Genome Epidemiology (HuGE) Navigator GAD1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: GAD1 No data available for Genatlas for GAD1 Gene Two human glutamate[genecards.org]
  • Cite Export Link to record Permanent link Direct link Sjögren-Larsson syndrome in Sweden: an epidemiological, genetic, clinical and biochemical study 1981 (English) Doctoral thesis, comprehensive summary (Other academic) Abstract [en] The Sjögren-Larsson[diva-portal.org]
  • Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 2014;261(4):752-8. Hobson GM, Kamholz J. PLP1-Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., editors.[plaza.umin.ac.jp]
  • 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 and emerging therapeutic strategies in Pelizaeus–Merzbacher disease. Expert Opinion on Orphan Drugs. 2015;3(12):1447-59. Inoue K.[plaza.umin.ac.jp]
  • 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

  • Where to Start You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC).[rarediseases.info.nih.gov]
  • How can I help prevent CP in my child? Because healthcare providers don’t know fully what causes congenital CP, little can be done to prevent it. CP related to gene problems can’t be prevented.[urmc.rochester.edu]
  • Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier.[nhs.uk]
  • He also feels that in future the cerebral palsy can be prevented if the cause is infection through immunization. Even if the transmission is hereditary, the cerebral palsy can be controlled through genetic engineering.[cerebralpalsytreating.com]
  • Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent cramps and spasms. Baclofen (a muscle relaxant) is the drug of choice to reduce spasticity.[merckmanuals.com]

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