Pediatrics: Rehabilitation Medicine Quick Reference presents 111 alphabetically arranged topics covering all major concerns in pediatric rehabilitation. [books.google.com]

The presentation is different and may be with signs of increased intracranial pressure, such as irritability, vomiting, headaches and convulsions. [patient.info]

Dysarthria and bladder dysfunction are often present. Cerebellar ataxia is common and some patients first present with this as a prominent sign in the first and second decades. [disorders.eyes.arizona.edu]

He has had no further seizures and is wheelchair-dependent at the present time. [documents.tips]

Abstract Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. [unboundmedicine.com]

• Precocious Puberty

  Paraplegia with Precocious Puberty: 32 # Description HPO Frequency HPO Source Accession 1 precocious puberty 32 HP:0000826 2 intellectual disability 32 HP:0001249 3 spastic paraplegia 32 HP:0001258 4 dysarthria 32 HP:0001260 5 abnormality of metabolism [malacards.org]

  / 4918/ spastic-paraplegia-with-precocious-puberty • • • Note: This site is for informational purposes only and is not medical advice. [familydiagnosis.com]

  Home Diseases Spastic paraplegia with precocious puberty Title Other Names: Familial spastic paraplegia, mental retardation, and precocious puberty; Precocious puberty with spastic paraplegia This table lists symptoms that people with this disease may [rarediseases.info.nih.gov]

  Keywords Precocious puberty Phenylketonuria Hyperphenylalaninaemia Gonadotropin-realising hormone agonist treatment Background True Central Precocious puberty (TCPP), also called GnRH-dependent precocious puberty, can be defined as true puberty, mediated [bmcendocrdisord.biomedcentral.com]

  puberty syndrome (OMIM 182820) Spastic paraplegia with Leydig cell hypoplasia, precocious puberty, brisk leg reflexes, dysarthria, and mild mental retardation which is transmitted as an autosomal dominant trait. spastic paraplegia-optic atrophy-dementia [neo-genetics.com]

• Disability

  Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [genomediagnosticsnijmegen.nl]

  Organized in three sections, the first part reviews diagnostic considerations and testing while the final section highlights special considerations such as aging with pediatric-onset disability and polytrauma. [books.google.com]

  A United States Bureau of Census report from 2004 found in excess of 32 million disabled adults and 5 million children with disabilities aged less than 18 years. [karger.com]

  Spastic diplegia infantile type 0 *Intellectual Disability *Spastic Paraplegia, Hereditary. Mental retardation spasticity ectrodactyly 0 *Intellectual Disability *Spastic Paraplegia, Hereditary *Limb Deformities, Congenital. [reference.md]

  At its core, the battle over growth attenuation is a battle between old and new ways of thinking about disability: the old “medical model,” which regards disabilities as a problem to be fixed, and the new, “social model,” which frames disability as a [nytimes.com]

• Collapse

  […] telangiectasia MND UMN only: PLS · PP · HSP LMN only: Distal hereditary motor neuropathies · Spinal muscular atrophies ( SMA, SMAX1, SMAX2, DSMA1, SMA-PCH, SMA-LED ) · PMA · PBP ( Fazio-Londe, Infantile progressive bulbar palsy ) both: ALS {| class="navbox collapsible [psychology.wikia.com]

  Creutzfeldt-Jakob disease Sporadic fetal brain disruption sequence Sporadic hyperekplexia Sporadic IBSN Sporadic idiopathic nephrosis Sporadic idiopathic steroid-resistant nephrotic syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing [orpha.net]

• Heart Failure

  Intrinsic Or Parenchymal Causes Renal Failure, Intrinsic Or Parenchymal Causes Renal Failure, Postrenal Causes Renal Failure, Prerenal Causes Renal Tubular Acidosis Renal Vein Thrombosis, Causes Respiratory Failure, Hypoventilatory Restless Legs Syndrome [elsevier.com]

  failure Vomiting Arrhythmia Hemiparesis Aphasia Orthostatic hypotension due to autonomic dysfunction Amyloidosis Psychomotor deterioration Multiple myeloma Urinary retention Restrictive cardiomyopathy Constrictive median neuropathy Sensory ataxia Motor [mendelian.co]

  Cardiac disease is frequently present and heart failure is the most common cause of death. Most patients have hypertrophic cardiomyopathy with characteristic EKG changes and some have subaortic stenosis as part of the hypertrophied myocardium. [disorders.eyes.arizona.edu]

• Muscle Spasticity

  Source MeSH Adult Diseases in Twins Epiphyses Genetic Counseling Humans Male Metacarpus Muscle Spasticity Paraplegia Risk Factors Syndrome Pub Type(s) Case Reports Journal Article Language eng PubMed ID 3430547 Citation Fitzsimmons, J S., and P R. [unboundmedicine.com]

  Fitzsimmons Walson Mellor syndrome 0 *Glomerulonephritis, IGA *Hearing Loss, Sensorineural *Intellectual Disability *Muscle Spasticity *Spastic Paraplegia, Hereditary. [reference.md]

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

• Macula

  Spastic Paraplegia 11 Clinical Characteristics Ocular Features: Gaze evoked nystagmus and pigmentation in the macula are components of this syndrome and adults have some degree of retinal degeneration with poor vision eventually. [disorders.eyes.arizona.edu]

  Vision impairement / blindness Fundus albipunctatus Vision impairement / blindness Glaucoma Vision impairement / blindness Gyrate atrophy of choroid and retina Vision impairement / blindness Leber Congenital Amaurosis Vision impairement / blindness Macula [genomediagnosticsnijmegen.nl]

• Erythema

  Eosinophiluria Ephelides (Freckles) Epicondylitis Epidermoid Cyst (Sebaceous Cyst, Epidermal Inclusion Cyst) Epididymitis Epiglottitis Epilepsy Episcleritis Epistaxis Epstein-Barr Infection Erectile Dysfunction, Organic Erosions, Genitalia Erysipelas Erythema [elsevier.com]

  It is a primitive experience but it could do a lot for the patients who were satisfied with the erythema and regimentation of their lesions. [drmhijazy.com]

• Suggestibility

  Every entry is standardized for quick look-up in the office or clinic, and features description, etiology, risk factors, clinical features, natural history, diagnosis, red flags, treatment, prognosis, helpful hints and suggested readings. [books.google.com]

  SUGGESTED PROGRAMMATIC ASSESSMENT* Suggested MER for evaluation: • Clinical history and examination that describes the diagnostic features of the disorder. • Developmental assessment or psychological testing to address allegations of intellectual disability [secure.ssa.gov]

  When the evidence suggests that there is no association with a Mendelian or chromosomal disorder then the recurrence risk is relatively low at between 1% and 5%. [ 7 ] Presentation [ 6 ] Symptoms often occur in early infancy with 80-90% of individuals [patient.info]

  This finding is in contrast to a previous report which suggested persistently high phenylalaninemia levels as potential trigger for CPP in PKU patients. [bmcendocrdisord.biomedcentral.com]

  The inheritance in these brothers is most likely an autosomal recessive pattern because the parents were normal and there was no family history to suggest an X-linked recessive inheritance. [documents.tips]

• Aggressive Behavior

  […] corpus callosum Dementia Abnormal cerebellum morphology Apraxia Abnormality of extrapyramidal motor function Primitive reflex Urinary bladder sphincter dysfunction Microcephaly Unsteady gait Talipes equinovarus Intellectual disability, moderate Mutism Aggressive [mendelian.co]

• Spastic Paraplegia

  More Symptoms of Spastic paraplegia with precocious puberty » • • • Back to: « Spastic paraplegia Causes See also causal information: Causes of Spastic paraplegia Names and Terminology References Source: GARD (NIH): rarediseases.info.nih.gov/ diseases [familydiagnosis.com]

  /homeostasis 32 HP:0001939 Search GEO for disease gene expression data for Spastic Paraplegia with Precocious Puberty. [malacards.org]

  Home Diseases Spastic paraplegia with precocious puberty Title Other Names: Familial spastic paraplegia, mental retardation, and precocious puberty; Precocious puberty with spastic paraplegia This table lists symptoms that people with this disease may [rarediseases.info.nih.gov]

  Spastic paraplegia 12, autosomal dominant 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 11, autosomal recessive 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 10, autosomal dominant 0 *Spastic Paraplegia, Hereditary. [reference.md]

  which is transmitted as an autosomal dominant trait. spastic paraplegia-retinal degeneration syndrome (OMIM 270700) Synonym: familial spastic paraplegia with retinal degeneration recessive spastic paraplegia with retinal degeneration Spastic paraplegia [neo-genetics.com]

• Seizure

  Seizures are treated with standard anticonvulsant medications. [secure.ssa.gov]

  Spastic paraplegia and seizures may be present. In 10-20% of individuals with DWS, signs and symptoms do not appear until late childhood or adulthood. [patient.info]

  CHEDIAK-HIGASHI SYNDROME; CHS Is also known as ;chédiak-higashi disease; chédiak-higashi-steinbrink syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: MONDO [mendelian.co]

  He has had no further seizures and is wheelchair-dependent at the present time. [documents.tips]

  Seizures, Absence Seizures, Febrile Seizures, Partial Seizures, Pediatric Septicemia Serotonin Syndrome Severe Acute Respiratory Syndrome (SARS) Sexual Precocity Sexually Transmitted Diseases, Anorectal Region Sexual Precocity Sheehan’s Syndrome Shigellosis [elsevier.com]

• Dysarthria

  Symptoms via clinical synopsis from OMIM: 57 Endocrine: precocious puberty Lab: leydig cell hyperplasia Neuro: spastic paraplegia mental retardation brisk leg reflexes dysarthria Clinical features from OMIM: 182820 Human phenotypes related to Spastic [malacards.org]

  Diseases related with Dysarthria and Spastic paraplegia In the following list you will find some of the most common rare diseases related to Dysarthria and Spastic paraplegia that can help you solving undiagnosed cases. [mendelian.co]

  In addition, they have a non-specific dysarthria and low-normal intellectual ability. [unboundmedicine.com]

  Neurological involvement includes pyramidal disorders, dysarthria, impaired vibratory sense, and dysfunction of the glossopharyngeal (ninth), vagus (tenth), and hypoglossal (twelfth) nerves. [neo-genetics.com]

  Showing of 6 | Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal dominant inheritance 0000006 Dysarthria Difficulty articulating [rarediseases.info.nih.gov]

• Hyperreflexia

  resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. [mendelian.co]

  SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. [ read more ] 21487076 KIF5A causing SPG10 604187 The disease is caused by mutations affecting the gene represented in this entry [nectarmutation.org]

  Hyperreflexia and spasticity develop early while ataxia, urinary sphincter disturbances, extensor plantar responses, and dysarthria appear later. Amyotrophy is frequently seen in the thenar and hypothenar muscles. [disorders.eyes.arizona.edu]

  On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes. Urinary dysfunctions and impaired vibration sense in the lower limbs were observed. [sp-foundationorg.presencehost.net]

• Hepatocellular Carcinoma

  Colorectal cancer N D00000023 Colorectal carcinoma N D00000024 Rectal carcinoma N D00000025 Hepatoblastoma N D00000026 Hepatoblastular carcinoma N D00000027 Hepatocellular carcinoma N D00000028 Lung cancer N D00000029 Lung carcinoma N D00000030 Intraductal [genes2cognition.org]

  Acute multifocal placoid pigment epitheliopathy Acquired pituitary hormone deficiency Addison disease Adie Syndrome Adiposis dolorosa ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Adrenal incidentaloma Adult hepatocellular [sanfordresearch.org]

  Hemoptysis Hemorrhoids Hemosiderinuria Henoch-Schoenlein Purpura Hepatic Coma Hepatic Cysts Hepatic Encephalopathy Hepatic Granulomas Hepatitis A Hepatitis, Acute Hepatitis, Autoimmune Hepatitis B Hepatitis C Hepatitis, Chronic Hepatitis D Hepatitis E Hepatocellular [elsevier.com]

Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Treatment Treatment Options: No treatment is known for the basic disease but physical therapy and low vision aids are likely beneficial. [disorders.eyes.arizona.edu]

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]

Every entry is standardized for quick look-up in the office or clinic, and features description, etiology, risk factors, clinical features, natural history, diagnosis, red flags, treatment, prognosis, helpful hints and suggested readings. [books.google.com]

Prognosis The effect of DWS on intellectual development is variable. Some children have normal cognitive development while others may never have normal intellectual development, even when the hydrocephalus is treated early. [patient.info]

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]

The prognosis for life is good and the pathological fractures unite normally. [drmhijazy.com]

Every entry is standardized for quick look-up in the office or clinic, and features description, etiology, risk factors, clinical features, natural history, diagnosis, red flags, treatment, prognosis, helpful hints and suggested readings. [books.google.com]

Premenstrual Dysphoric Disorder Progressive Supranuclear Palsy Prolactinoma Pronator Syndrome Proptosis Proptosis And Palatal Necrotic Ulcers Prostate Cancer Prostatic Hyperplasia, Benign Proteinuria Pruritus Pruritus Ani Pruritus Vulvae Pseudocyanosis, Etiology [elsevier.com]

Clinical clue that suggest a hormonal etiology of obesity: Short stature Dry skin, constipation, cold intolerance Inappropriate sexual development in an early age Headache, vomiting, visual disturbances Obese child with these symptoms should investigate [drhc.ae]

ALBRIGHT'S SYNDROME Etiology The cause of this syndrome is unknown. The full syndrome with precocious puberty occurs only in girls. [drmhijazy.com]

JAMA. 1982, 248: 1149-1151. 10.1001/jama.1982.03330100003001. 1155 View Article PubMed Google Scholar Bridges NA, Christopher JA, Hindmarsh PC, Brook CG: Sexual precocity: sex incidence and etiology. [bmcendocrdisord.biomedcentral.com]

Epidemiology Incidence is approximately 1 in 25-35,000 live births. [ 3 ] It occurs slightly more frequently in females than in males. Marked variation has been shown in the genetics and aetiology. [patient.info]

Linguistic Variant - Portuguese, Brazil) 2015AB LNC-RU-RU (LOINC Linguistic Variant - Russian, Russia) 2015AB LNC-TR-TR (LOINC Linguistic Variant - Turkish, Turkey) 2015AB LNC-ZH-CN (LOINC Linguistic Variant - Chinese, China) 2015AB MCM (Glossary of Clinical Epidemiologic [doctor.am]

Assistant Professor, Ophthalmology Research Focus: Identification of pathophysiological mechanisms underlying human ophthalmic, neurological and neurodegenerative disorders. Wendy Kartje, M.D., Ph.D. [ssom.luc.edu]

Further detailed investigations, includ- ing molecular studies, will likely be required to under- stand the pathophysiology of HSP and ES when they occur together. References I. Gordon N. Hereditary spastic paraplegia. A diagnostic reminder. [documents.tips]

The Centers for Disease Control and Prevention recommends two doses of rubella vaccine for all children, given as combination measles-mumps-rubella vaccine, with doses at least four weeks apart. [medical-dictionary.thefreedictionary.com]

NCI_CTEP-SDC (Cancer Therapy Evaluation Program - Simple Disease Classification) 2015AB NCI_CareLex (Content Archive Resource Exchange Lexicon) 2015AB NCI_DCP (NCI Division of Cancer Prevention Program) 2015AB NCI_DICOM (Digital Imaging Communications [doctor.am]

PREVENTION: Identify young children who are predisposed to adolescent and adult obesity Learning lifelong habit that incorporates exercise and healthy eating is essential Dubai Pediatric Clinic at Dr Rami Hamed Center provides one of the leading pediatrician [drhc.ae]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.com]

Phe-restricted diets with amino acid and micronutrient supplementation are highly effective in preventing irreversible brain damage and allow for a normal physical and cognitive development [ 10 ]. [bmcendocrdisord.biomedcentral.com]