Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. [orpha.net]

The clinical presentation is variable. The most severe presentation is of infantile acidosis, resulting in death by 6 months of age. [adc.bmj.com]

Elsevier, ٢٢‏/١٠‏/٢٠١٣ - 146 من الصفحات Cerebral Palsy: A Clinical and Neuropathological Study is an account of a detailed study in which obstetrical, neonatal and neurological investigations on a large group of patients are presented with full neuropathological [books.google.com]

Symptoms can present themselves as early as three months but are generally seen before the child reaches two years of age. [en.wikipedia.org]

• Hiccup

  Record number: 23, Textual support number: 1 OBS The term "hiccup" is recommended by the Medical Signs and Symptoms Committee. 4, record 23, English, - hiccup Record 23, French Record 23, Domaine(s) Symptômes (Médecine) Record 23, Abbreviations, French [btb.termiumplus.gc.ca]

• Tenesmus

  […] support, English Record number: 10, Textual support number: 1 DEF Spasmodic contraction of anal or vesical sphincter with pain and persistent desire to empty the bowel or bladder, with involuntary ineffectual straining efforts. 2, record 10, English, - tenesmus [btb.termiumplus.gc.ca]

• Sexual Dysfunction

  Disability and chronic health conditions may result in primary and secondary sexual dysfunction. Fears can include concerns about sexual exploitation in this population, and body image concerns on the part of the adolescents. [medicalhomeportal.org]

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

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]

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]

This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. [books.google.com]

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]

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 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]

Firstly, some may be treatable; secondly, the family can be provided with more accurate information regarding the prognosis; and finally, genetic counselling may be offered, including, where appropriate, prenatal testing. [adc.bmj.com]

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]

Although frequently requiring sedation, the brain MRI is often the best choice for imaging when looking for an etiology. Imaging around 18 months of age may provide the best yield. [medicalhomeportal.org]

Intrathecal synthesis of IgG antibodies to HTLV-I supports an etiological role for HTLV-I in tropical spastic paraparesis. Ann Neural 1988 ; 23:Suppl: S188 –S191. 11. Grimaldi LM, Roos RP, Devare SG, et al.. [nejm.org]

[…] 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]

Epidemiology Cerebral palsy is a relatively uncommon condition. Pooled data from five active cerebral palsy registers in the UK suggest a mean annual prevalence rate for normal birth-weight children of 1.2 per 1,000 live births. [patient.info]

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]

Can cerebral palsy be prevented? In many cases, the cause of cerebral palsy is not known, so there is nothing that can be done to prevent it. [americanpregnancy.org]

It can be prevented with a vaccine. Chickenpox (varicella). Chickenpox is a contagious viral infection that causes itching and rashes, and it can cause pregnancy complications. It too can be prevented with a vaccine. Cytomegalovirus. [mayoclinic.org]

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]

Nonsurgical interventions may include: Rehabilitation Positioning aids (used to help the child sit, lie, or stand) Braces and splints (used to prevent deformity and to provide support or protection) Medications (used to help control seizures or to decrease [stanfordchildrens.org]