Tethered Spinal Cord – presents as lower limb spasticity with deficits to bowel and bladder function. [learn.pediatrics.ubc.ca]

Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, short stature, failure to [jhu.pure.elsevier.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]

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]

Case presentation Patient 1 The proband (Fig. 1, V: 2) is 1-month-old Saudi boy born normally at term to first 24-year- old parents. [bmcneurol.biomedcentral.com]

• Developmental Delay

  Keywords: Cerebral palsy, developmental delay, etiology, microcephaly How to cite this article: Aggarwal A, Mittal H, Patil R, Debnath S, Rai A. Clinical profile of children with developmental delay and microcephaly. [ruralneuropractice.com]

  Related symptoms: Intellectual disability Seizures Global developmental delay Strabismus Spasticity SOURCES: OMIM ORPHANET ICD10 SCTID More info about SCHIZENCEPHALY Too many results? We can help you with your rare disease diagnosis. [mendelian.co]

  Definition A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. [uniprot.org]

  Abcde 6 years old Spina Bifida Adaptive Tricycle Read More Adam 7 years old Cerebral Palsy, Spastic Quadriplegia Adaptive Stroller Read More Addam 5 years old Autism, Developmental Delays Assistive Device Read More Aicha 12 years old spinal cord injury [wheelchairs4kids.org]

• Fever

  Zika is related to a group of viruses that include: dengue fever tick borne encephalitis yellow fever These viruses can all cause death and be associated with debilitating disease but, unlike Zika, do not tend to cause malformations in the foetus in utero [duttongregory.co.uk]

  Figure 1: Zika fever symptoms of babies born with microcephaly. Affected newborns generally have striking neurological defects and seizures. [zikavirusnet.com]

  Fever may be present, and crying becomes weak. The Moro and deep tendon reflexes become difficult to elicit, and general muscle tone becomes decreased. [neupsykey.com]

  Causes Seizures are typically triggered when the electrical activity in the brain misfires somehow, which can be caused for numerous reasons, including: Brain damage Head injuries Reaction to certain medications Dehydration or electrolyte imbalance High fever [cerebralpalsyguidance.com]

  CMV usually just causes sniffles and possibly a low grade fever, she says. However, CMV infection can cause serious health problems for people with weakened immune systems, such as individuals with HIV or those who have an organ transplant. [npr.org]

• Pathologist

  Speech and language pathologist. This professional can help your child speak more clearly or communicate in other ways. Special education teacher. This person has special training to help your child with learning. [marchofdimes.org]

  Speech therapy: Speech and language pathologists are involved with the development and improvement of speech production. Using different techniques the speech pathologist helps to improve the quality and the quantity of the speech production. [medicinenet.com]

  […] curvatures Physical therapist Develops and implements care plans to improve movement and strength, and administers formal gait analyses Occupational therapist Develops and implements care plans focused on activities of daily living Speech and language pathologist [aafp.org]

  A speech and language pathologist, who specializes in diagnosing and treating communication problems. A social worker, who can help patients and their families locate community assistance and education programs. [healing-arts.org]

• Developmental Disorder

  However, the deficits of most individuals with CP or SE remain of uncertain pathogenesis, although rapid progress in the elucidation of genetically determined developmental disorders is reducing this uncertainty and replacing these generic labels with [mhmedical.com]

  Parents who are concerned about their baby's development for any reason should contact their physician, who can help distinguish normal variation in development from a developmental disorder. [ Return to "Quick-Index" of Overview of Cerebral Palsy ] How [healing-arts.org]

• Choking

  Proper position, such as sitting up while eating or drinking and extending the individual's neck away from the body to reduce the risk of choking, is also helpful. [healing-arts.org]

• Neonatal Jaundice

  Risks factors were birth asphyxia (50.2%), neonatal jaundice (19.9%) and preterm gestation (18.6%). [ruralneuropractice.com]

• Small Head

  Overview Microcephaly with spastic quadriplegia: A very rare disorder characterized by an abnormally small head and quadriplegia. [checkorphan.org]

  Microcephaly: An abnormally small head due to failure of brain growth. In precise terms, microcephaly is a head circumference that is more than 2 standard deviations below the normal mean for age, sex, race, and gestation. [dxline.info]

  The Hartleys had no idea their first daughter, born after son Cal, now 17, was at any risk for the condition (which her doctors surmise is genetic) until she was born with a small head. [yahoo.com]

  Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. [psychology.wikia.com]

  Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. [zikavirusnet.com]

• Psychomotor Retardation

  Article PubMed Central PubMed CAS Google Scholar Friesema EC, Grueters A, Biebermann H et al 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364: 1435–1437. [link.springer.com]

  Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. [owenjamesdicandilo.com]

  The clinical and radiographic presentation of our patients, namely congenital microcephaly, hyperekplexia, brain malformation, and (in long term survivors) severe psychomotor retardation and cortical blindness is identical to that observed in the patients [bmcneurol.biomedcentral.com]

• Urinary Incontinence

  People with cerebral palsy may also have: Difficulty with vision and hearing Intellectual disabilities Seizures Abnormal touch or pain perceptions Oral diseases Mental health (psychiatric) conditions Urinary incontinence When to see a doctor It's important [mayoclinic.org]

  Urinary incontinence Caused by impaired control of bladder muscles Special exercises Biofeedback Prescription medications Surgery Surgically implanted devices to replace or aid muscles Specially designed undergarments TABLE 2 Common Complications of Cerebral [aafp.org]

• Spastic Quadriplegia

  […] with spastic quadriplegia symptoms. [checkorphan.org]

  Aliases & Classifications for Microcephaly with Spastic Quadriplegia Summaries for Microcephaly with Spastic Quadriplegia Related Diseases for Microcephaly with Spastic Quadriplegia Symptoms & Phenotypes for Microcephaly with Spastic Quadriplegia Drugs [malacards.org]

  […] lead to brain damage causing spastic quadriplegia. [en.wikipedia.org]

  PubMed is a searchable database of medical literature and lists journal articles that discuss Microcephaly with spastic quadriplegia. Click on the link to view a sample search on this topic. [rarediseases.info.nih.gov]

• Dysarthria

  Dysarthria and dysphagia are also features and gastrostomy feeding tubes may be required to maintain nutrition. Seizures are uncommon. [disorders.eyes.arizona.edu]

  Patients may also have problems coordinating the muscle movements needed for speech, a condition known as dysarthria. Athetoid cerebral palsy affects about 10 to 20 percent of patients. [healing-arts.org]

  Some, like poor word pronunciation ( dysarthria ), are the result of impairment of the peripheral mechanism of speech (poor lips, tongue, or palate coordination). [medicinenet.com]

• Febrile Seizures

  febrile seizure (SFS) [Table 1]. [ijcpjournal.org]

  Hemiparesis Aplasia/Hypoplasia of the corpus callosum Increased serum lactate Gliosis Elevated serum creatine phosphokinase Porencephalic cyst Feeding difficulties Severe global developmental delay Lissencephaly Visual impairment Pachygyria Infantile spasms Febrile [mendelian.co]

• Intracranial Hemorrhage

  These include, damage to the white matter ( periventricular leukomalacia ), abnormal brain development (cerebral dysgenesis), bleeding in the brain ( intracranial hemorrhage ), and brain damage due to lack of oxygen (hypoxic-ischemic encephalopathy or [en.wikipedia.org]

• Delayed Milestone

  This often presents as hypotonia in the first year of life with delayed milestones. Dyskinesia (including choreoathetosis) (5%) = Basal ganglia lesion which results in abnormalities of voluntary movement. [learn.pediatrics.ubc.ca]

[…] without any CNS infection, a nontraumatic LP infrequently shows CSF pleocytosis (96% have [38] or low CSF glucose concentration (hypoglycorrhachia) which can be caused by GLUT1 deficiency. [40] Depending on associated symptoms, a complete metabolic workup [ijcpjournal.org]

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]

[…] and other new treatments; and the neurologic effects of illicit drug use. [books.google.com]

Treatment for Megalencephaly Treatment is symptomatic. Prognosis for Infants with Megalencephaly Prognosis varies according to the severity of associated disorders. Prognosis for those afflicted with unilateral megalencephaly is poor. [healthcommunities.com]

In a survey study on pain treatments used by patients with cerebral calsy, the researchers found, “The treatment that was rated as providing the most relief was marijuana; however, less than 5% of the sample reported ever using this drug for pain.” [medicaljane.com]

More Symptoms of Cerebral palsy spastic quadriplegic » Diagnosis See also related information on diagnosis: Diagnosis of Cerebral Palsy Treatments See also the following treatment articles: Treatments for Cerebral Palsy Causes See also causal information [familydiagnosis.com]

Prognosis for Infants with Megalencephaly Prognosis varies according to the severity of associated disorders. Prognosis for those afflicted with unilateral megalencephaly is poor. [healthcommunities.com]

I believe, however, that a more discriminating definition is useful if the physician is to draw conclusions about the etiology, management and prognosis of the patient and his/her motor disability. [austinpublishinggroup.com]

Prognosis - Microcephaly with spastic quadriplegia Not supplied. Treatment - Microcephaly with spastic quadriplegia Not supplied. Resources - Microcephaly with spastic quadriplegia Not supplied. [checkorphan.org]

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities. [zikavirusnet.com]

[…] children with developmental delay concluded definite etiology in 56%, genetic causes being most common. [ruralneuropractice.com]

In this definition the etiology and the timing of the brain injury is important. [austinpublishinggroup.com]

One syndrome can have different etiologies and prognoses. [ijcpjournal.org]

The designation of cerebral palsy as an entity, despite the heterogeneity of underlying etiologic conditions, is valuable because afflicted children commonly have similar medical care, rehabilitation, and social services needs. [neupsykey.com]

There are a variety of underlying etiologies and a wide range in severity making CP difficult to diagnose. [learn.pediatrics.ubc.ca]

The book also provides updated epidemiologic and statistical data throughout and includes a section on biostatistics in physical medicine and rehabilitation. [books.google.com]

In most epidemiologic studies, preterm infants constitute approximately half of all infants with cerebral palsy. [neupsykey.com]

Update on the epidemiology and prognosis of pediatric epilepsy. J Child Neurol 2002;17 Suppl 1:S4-17. 76. Kakushadze ZN, Bokeriia IR, Natroshvili IG, Kandareli LG, Davituliani Kh R. [ijcpjournal.org]

Pathophysiology of epilepsies and electroencephalographic findings CP etiology may predict the development of epilepsy. The larger/more critical the area damaged in the brain, the greater is the probability of developing both CP and epilepsy. [ijcpjournal.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]

In most cases, a special serum given after each childbirth can prevent the unwanted production of antibodies. [healing-arts.org]

Causes - Microcephaly with spastic quadriplegia Other Possible Causes of these Symptoms * Infantile spasms * Mental retardation * Small head * Spastic quadriplegia Prevention - Microcephaly with spastic quadriplegia Not supplied. [checkorphan.org]

Until 2015 ACOG recommended more aggressive prevention efforts, especially for women who are around toddlers, who can be hot zones for viral transmission with all their dribbling and drooling. [npr.org]

Mittens may be needed during teething to prevent damage to fingers and hands. [aafp.org]