Pediatrics In Review congenital myotonic dystrophy, also known as Steinert disease, is an autosomal life,motor function may improve significantly, although facial diplegia persists http://medicine.ucsd.edu/peds/Pediatric Links/Links/Neurology/Hypotonia in Infan
Extractions: Volume 17 Number 3 March 1996 Neonatal hypotonia can have many different etiologies. Floppiness in an infant can be caused at various levels of the nervous system from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders, and myopathies. A variety of diagnostic tools are available for defining the source of the hypotonia, but before any serum values, muscle biopsies, electromyelograms (EMGs), or nerve conduction studies are ordered, a thorough neurologic examination is essential for determining the diagnosis. The first goal in diagnosing the source of neonatal hypotonia is to ascertain if it is central or peripheral. Infants who have central hypotonia from a brain source usually have other central deficits. If the child is alert, responds to surroundings, and has normal sleep-wake cycles, the hypotonia is likely to be peripheral in origin. On the other hand, if the child lacks visual tracking, appears lethargic, and has seizures or delayed milestones, it most likely is caused by a central source. The most common forms of neonatal floppiness are central in origin. Disorders of the developing brain that cause hypotonia include hypoxic encephalopathy, intracranial hemorrhage, infection, metabolic disorders, perinatal trauma, hypoglycemia, hypothyroidism, and chromosomal abnormalities. Infants who have central brain disorders present with a decrease in active motor strength compared with passive tone, which actually can be increased markedly. A typical infant would have poor head control and hip/shoulder weakness, but with spastic extremities. Reflexes are either normal or increased, as opposed to most peripheral causes, where the reflexes are decreased significantly.
Facioscapulohumeral Muscular Dystrophy (codes) feature of this group of diseases is the congenital absence of and relatively rapidprogression and an association with facial diplegia, sensorineural deafness http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=483
Evaluation Of Neuromuscular Disease In Children Weakness of facial and bulbar muscles facial diplegia; ptosis; external congenitalmyotonic dystrophy; congenital myopathy; Brachial plexopathy; Mononeuropathy; http://www.emory.edu/PEDS/NEURO/nmdz_jts.htm
Extractions: The traditional approach to the topic of neuromuscular disease is to highlight constituents of the lower motor unit and discuss pathological processes that affect particular components, i.e. anterior horn cells, peripheral nerve, neuromuscular junction and muscle. Although this has proven to be a useful pedagogical strategy, it is not economical, practically or intellectually when dealing with children with neuromuscular disorders. An alternative approach is to take advantage of the fact that certain diseases present stereotypically in terms of the clinical features and the age at which they become manifest. Unlike adults, where the age of onset of symptoms may be of little help in suggesting their etiology, the age of presentation and incidence of particular disease entities in that age group can be used to structure a differential diagnosis appropriate to the age of the child. Weakness of axial muscles
Pathology Molecular Genetics Myotonic Dystrophy In a small proportion of cases, myotonic dystrophy may be congenital withneonatal hypotonia, motor and mental retardation, and facial diplegia. http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Myotonic_D
Extractions: Myotonic dystrophy is an autosomal dominant disorder characterized by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. In a small proportion of cases, myotonic dystrophy may be congenital with neonatal hypotonia, motor and mental retardation, and facial diplegia. The genetic defect is an expansion of a trinucleotide pattern repeat in the 3-prime untranslated region of a protein kinase gene (DMPK) mapped to chromosome 19. Increases in clinical severity are frequently observed after parent-to-child transmission, although the severe congenital form occurs almost exclusively in the offspring of affected women. The severity of this disorder varies with the number of repeats.
Extractions: THE POSTMIGRATIONAL DEVELOPMENT OF POLYMICROGYRIA DOCUMENTED BY MAGNETIC RESONANCE IMAGING FROM 31 WEEKS POSTCONCEPTIONAL AGE Terrie E. Inder, M.D. , Petra S. Huppi, M.D. , Gary P. Zientara, Ph.D. , Ferenc A. Jolesz, M.D. , Erik E. Holling, B.A. , Richard Robertson, M.D. , Patrick D. Barnes, M.D. , Joseph J. Volpe, M.D. Abstract We report the case of a 27 week premature infant in whom magnetic resonance (MR) imaging at four postnatal weeks (postconceptional age 31 weeks), term and 6 months of age documented the postnatal, postmigrational evolution of bilateral perisylvian polymicrogyria. The polymicrogyria was readily detected by ultrafine 1.5 mm coronal slices on three dimensional Fourier transformed spoiled gradient recalled (SPGR) and T2 weighted MR sequences. These MR images provide the first in-vivo documentation of the postmigrational evolution of polymicrogyria. The likelihood that the polymicrogyria was related to an ischemic, encephaloclastic mechanism is supported by the simultaneous occurrence of periventricular leukomalacia.
Congenital Anomalies Of The Eyelid, Orbit, And Lacrimal System microphthalmos, ocular colobomas, and facial clefts should Blepharophimosis syndromeis a congenital syndrome of but has been associated with spastic diplegia. http://www.ophthalmic.hyperguides.com/Tutorials/oculoplastics/congenital_anom/tu
Extractions: You've spent minutes on Ophthalmic Hyperguide The development of the lacrimal drainage system begins at approximately 6 week's gestation. Canalization of the ectodermal cord begins during the third month in the area of the medial canthus. Canalization progresses toward the eyelid margin and toward the inferior meatus. The lacrimal puncta normally opens with eyelid separation during the seventh month of gestation. The distal lacrimal drainage system may not become patent until birth or shortly after birth. Blockage of the nasolacrimal system typically occurs in the distal portion where the tear duct opens into the nose beneath the inferior turbinate (Hasner valve). Because tears are not normally produced until a few weeks after birth, blockage of the lacrimal duct may not be recognized until several weeks after birth. Only about 1% to 6% of infants have symptomatic nasolacrimal duct obstruction. However, the majority of cases resolve by 1 year of age.
ATE Responses congenital axonal neuropathy caused by deletions in the spinal muscular siblingspresented with generalized weakness, asphyxia, facial diplegia, and external http://www.mdausa.org/experts/question.cfm?id=1085
Spinal Muscular Atrophy (SMA) | MDA Ask The Experts 1. Ann Neurol 1997 Sep;42(3)3648 congenital axonal neuropathy newborn siblingspresented with generalized weakness, asphyxia, facial diplegia, and external http://www.mdausa.org/experts/ask_sma.html
Extractions: Information contained in "Ask the Experts" is for informational and educational purposes only. Such information is not intended to replace, and should not be interpreted or relied upon as, professional advice, whether medical or otherwise. I have read the complete MDA Ask the Experts' , understand and agree to its terms. Summary of Previous Responses: SPINAL MUSCULAR ATROPHY (SMA) Last Updated 11/01 Approximate date of response given after each "SUBJ" below. SUBJ (11/01): HIGHER PROPENSITY FOR SKIN DISEASE I'm female, age 37 and diagnosed with spinal muscular atrophy (SMA). Do people with SMA have a higher propensity for skin diseases? I have lychens simplex chronicus and rosacea, and all of my friends that have SMA have some form of skin disorder. REPLY from MDA: Wendy Larson Peltier, M.D., MDA Clinic Director, Medical College of Wisconsin, Milwaukee, WI To my knowledge there is no association between skin disorders and spinal muscular atrophy (SMA). There may be a higher incidence, however, of certain skin disorders on the basis of being relatively immobile, or using braces or other devices that may cause chronic skin irritation. SUBJ (11/01): CONTRACTURES BETWEEN LEGS I am a 32-year-old female with spinal muscular atrophy (SMA type 2-3). I use a power wheelchair and have for many years. I have severe contractures in my hips, knees and between my legs. I would like to know more about surgery to release the contractures between my legs. I have tried Botox injections and wasn't able to continue with that treatment. It didn't seem to help anyway because it affected my muscles everywhere and was causing more weakness than I already have. If I have surgery to release just the contractures between my legs, what would that involve? How long of a recovery period should I expect? Do you think I would be able to handle the procedure satisfactorily? I don't know of any other alternatives besides surgery.
Myotonic Dystrophy very mild weakness to severe and potentially fatal congenital hypotonia, and affectedfamily; testing of newborns with severe hypotonia and/or facial diplegia. http://www.shodairhospital.org/myotonic dystrophy.htm
Extractions: Contact Us Foundation Genetics Home ... Staff Myotonic Dystrophy (DM) Mutation Testing DESCRIPTION: REASONS FOR REFERRAL: METHOD OF ANALYSIS: DNA from the patient is amplified by PCR using fluorescent primers. CTG allele sizes are determined by a high resolution laser-induced capillary electrophoresis system with internal standard.
ICD-9-CM International Coding Standard 343.2 congenital quadriplegia 343.3 congenital monoplegia 343.4 Quadriplegia 344.1Paraplegia 344.2 diplegia of upper 351 facial nerve disorders 351.0 Bell s http://www.cs.umu.se/~medinfo/ICD9/icd9cm_group6.html
ICD-9-CM Diseases Of The Nervous System And Sense Organs Codes 3432, congenital QUADRIPLEGIA. 3433, congenital MONOPLEGIA. 3441, PARAPLEGIA NOS.3442, diplegia OF UPPER LIMBS. 351, facial NERVE DISORDERS*. 3510, BELL'S PALSY. http://www.health.state.ok.us/program/hci/icd9v16/nervous.html
Extractions: Code Description BACTERIAL MENINGITIS* HEMOPHILUS MENINGITIS PNEUMOCOCCAL MENINGITIS STREPTOCOCCAL MENINGITIS STAPHYLOCOCC MENINGITIS MENING IN OTH BACT DIS BACTERIAL MENINGITIS NEC* ANAEROBIC MENINGITIS MNINGTS GRAM-NEG BCT NEC MENINGITIS OTH SPCF BACT BACTERIAL MENINGITIS NOS OTH ORGANISM MENINGITIS* CRYPTOCOCCAL MENINGITIS MENING IN OTH FUNGAL DIS MENING IN OTH VIRAL DIS TRYPANOSOMIASIS MENINGIT MENINGIT D/T SARCOIDOSIS MENING IN OTH NONBAC DIS MENINGITIS, UNSPECIFIED* NONPYOGENIC MENINGITIS EOSINOPHILIC MENINGITIS CHRONIC MENINGITIS MENINGITIS NOS ENCEPHALOMYELITIS* ENCEPHALIT IN VIRAL DIS RICKETTSIAL ENCEPHALITIS PROTOZOAL ENCEPHALITIS OTH ENCEPHALIT D/T INFEC POSTIMMUNIZAT ENCEPHALIT POSTINFECT ENCEPHALITIS TOXIC ENCEPHALITIS ENCEPHALITIS NEC ENCEPHALITIS NOS CNS ABSCESS* INTRACRANIAL ABSCESS INTRASPINAL ABSCESS CNS ABSCESS NOS PHLEBITIS INTRCRAN SINUS LATE EFF CNS ABSCESS CEREBRAL DEGEN IN CHILD* LEUKODYSTROPHY CEREBRAL LIPIDOSES CEREB DEGEN IN LIPIDOSIS CERB DEG CHLD IN OTH DIS CEREB DEGEN IN CHILD NEC CEREB DEGEN IN CHILD NOS CEREBRAL DEGENERATION* ALZHEIMER'S DISEASE PICK'S DISEASE SENILE DEGENERAT BRAIN COMMUNICAT HYDROCEPHALUS OBSTRUCTIV HYDROCEPHALUS CEREB DEGEN IN OTH DIS CEREB DEGENERATION NEC* REYE'S SYNDROME CEREB DEGENERATION NEC CEREB DEGENERATION NOS PARKINSON'S DISEASE* PARALYSIS AGITANS SECONDARY PARKINSONISM
[DYSPHAGIA] Polyhydramnios An Esp Pediatr 1999 ;5138996 Steinert's congenital myotonic dystrophy and characterizedby generalized hypotonia, areflexia, facial diplegia, respiratory and http://www.b9.com/dysphagia/2001-May/msg00370.html
Final Report: An Embryological Origin For Autism autism. People with Moebius syndrome, a congenital diplegia of facialmuscles and eye abductors, have a 30% rate of autism. The http://es.epa.gov/ncer/final/grants/95/human/rodier.html
Extractions: Research Category: 1995 Human Health Risk Assessment Project Description: Autism spectrum disorders (ASDs) are among the most common congenital anomalies, occurring at a rate of at least 1.6 /1000 births. Little is known about the causes, and even less about the nature of the CNS injury underlying the symptoms. Family studies indicate that unknown genetic factors account for about 90% of the variance and environmental factors are also involved. In 1994, it was discovered that exposure of the closing neural tube of the human embryo to thalidomide, a well-known teratogen, could produce autism at a high rate. Valproic acid (VPA) and ethanol have been implicated as other teratogens that increase the risk of autism. Because we had been working on the same period of brain development in studies of Fetal Alcohol Syndrome and pituitary development, the thalidomide results told us many things that might be useful in studying the etiology of autism. For example, they suggested that it should be possible to model the initiating injury in animals, to demonstrate brain stem anomalies in the brains of human cases, and to find somatic evidence of early injury in patients with autism. Our objective was to test these predictions.
Andy Calder To investigate this issue, we studied a group of participants with a rare congenitaldisorder that causes facial diplegia (Möbius Syndrome) (Calder, Keane http://www.mrc-cbu.cam.ac.uk/personal/andy.calder/neuropsychology.shtml
Extractions: Search for: In addition to the researchers mentioned in each section, a number of studies have also been conducted in collaboration with Andy Young at the University of York, Dave Perrett at the University of St Andrews, and Andrew Lawrence and Jill Keane here at the CBU. Figure 1: Research summarised below discusses the involvement of the amygdala in fear processing and insula/basal ganglia regions in disgust processing. This graphic illustrates the position of these structures in the brain. Impaired recognition of fear and anger following bilateral amygdala damage A collaborative project with Sophie Scott (University College London), addressed the contribution of the amygdala to the recognition of emotion from vocal cues (Scott et al., 1997) in case DR. Results showed that DR demonstrates an identical pattern in the vocal domain (i.e., impaired recognition of vocal signals of fear and anger), supporting the view that the amygdala contributes to the recognition of these emotions across different sensory modalities (Calder et al., 2001b). This proposal is also supported by a collaborative functional imaging (fMRI) project with Mary Phillips (Institute of Psychiatry) (Phillips et al., 1998), which showed enhanced amygdala signals for facial and vocal signals of fear (see below).
Palsy Articles, Support Groups, And Resources Cerebral Palsy Vs congenital Encephalopathy (Child and Neurosurgery Forum); bilateralfacial paralysis 6 genetic spastic diplegia (Neurology and Neurosurgery http://www.medhelp.org/HealthTopics/Palsy.html
NIH: Health Information Hemifacial Spasm. MelkerssonRosenthal Syndrome. Mobius Syndrome (CongenitalFacial diplegia). Parry-Romberg Syndrome. Trigeminal Neuralgia. Up to Top. http://health.nih.gov/result.asp?disease_id=250
NIH: Health Information Holoprosencephaly. MelkerssonRosenthal Syndrome. Mobius Syndrome (CongenitalFacial diplegia). Parry-Romberg Syndrome. Trigeminal Neuralgia. Up to Top. http://health.nih.gov/result.asp?disease_id=250&category_id=6
ÇáËÞÇÝÉ ÇáØÈíÉ ÇáÑíÇÖíÉ 38. l MBS1 Chromosome 13q12.2q13; Dominant , or Clinical Congenitalfacial diplegia; ± Asymmetric; Ophthalmoplegia, esp VI nerve; http://www.geocities.com/altahul/1211.htm
Searchalot Directory For Mobius Syndrome Moebius syndrome. Mobius Syndrome Also known as congenital facialdiplegia, an information sheet compiled by NINDS. MCW Healthlink http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Mobi
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