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526 Possible Causes for Mental Retardation, Spasticity - Hyperreflexia

  • Hallervorden-Spatz Syndrome

    Described features include 9,11 : progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria[radiopaedia.org] Clinical presentations include dystonia, dysarthria, dementia, severe mental retardation and ataxia with rare features as rigidity, choreoathetosis, seizures, optic atrophy[medresearch.in] Spasticity, hyperreflexia, and other signs of corticospinal tract involvement are common and eventually limit ambulation.[ncbi.nlm.nih.gov]

  • Lesch Nyhan Syndrome

    In LNS patients there are three major signs of pyramidal dysfunction: spasticity, hyperreflexia and the extensor plantar reflex (also known as the Babinski reflex: the great[themedicalbiochemistrypage.org] Register The LESCH-NYHAN SYNDROME: Cerebral Palsy, Mental Retardation, and Self Mutilation - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00 Rental This article is also available[academic.oup.com] They also develop signs of pyramidal involvement including spasticity, hyperreflexia, and extensor plantar reflexes.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 10

    ) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar[orpha.net] SPG14 Gene Unknown 3q27-q28 Unknown Complicated: polineuropathy, mental retardation.[scielo.br] […] can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or[orpha.net]

  • Klinefelter Syndrome

    This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities.[ncbi.nlm.nih.gov] This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[ncbi.nlm.nih.gov] Author information 1 Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy. micezia@tiscali.it, msalemi@oasi.en.it. 2 Section of Endocrinology[ncbi.nlm.nih.gov]

  • Hereditary Spastic Paraplegia

    […] by progressive spasticity and hyperreflexia of the lower limbs HSMN V familial spastic paraplegia Strümpell-Lorrain disease French settlement disease Strumpell-Lorrain disease[wikidata.org] retardation and ichthyosis.[ncbi.nlm.nih.gov] HSP is generally classified as pure when lower limb spasticity and weakness, hyperreflexia, extensor-plantar responses, decreased vibration sense at the ankles, bladder dysfunction[omicsonline.org]

  • Alexander Disease

    hyperreflexia, positive Babinski sign, gait abnormality, and weakness, though individual-to-individual and intrafamilial variability is seen [ Graff-Radford et al 2014 ].[ncbi.nlm.nih.gov] The patient initially presented at 9 months of age, with profound mental retardation and a history of seizures.[ncbi.nlm.nih.gov] Diffuse white matter involvement with frontal predominance is typical of infantile AD that is clinically characterized by progressive motor and mental retardation, seizures[ncbi.nlm.nih.gov]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Related symptoms: Autosomal recessive inheritance Generalized hypotonia Nystagmus Spasticity Hyperreflexia SOURCES: MESH GARD UMLS OMIM MONDO More info about AICARDI-GOUTIERES[mendelian.co] Retardation , Autosomal Dominant 20 Mental Retardation , Autosomal Dominant 35 Mental Retardation , Autosomal Dominant 36 Mental Retardation , X-Linked 102 Mental Retardation[familydiagnosis.com] , hyperreflexia, irritability, tremors, and seizures, but very little is known about early development.[worldwidescience.org]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia[malacards.org] Volcke Ph, Dereymaeker AM, Fryns JP, Van den Berghe H: On the nosology of moderate mental retardation with special attention to X-linked mental retardation.[karger.com] […] usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 8

    24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes[malacards.org] Arena syndrome 0 *Spastic Paraplegia, Hereditary *Mental Retardation, X-Linked.[reference.md] Motor (83%) Distribution: Lower limb involvement Weakness Spastic paraplegia Progressive defecit Epilepsy (100%) Mental retardation: Variable severity Lipodystrophy with[neuromuscular.wustl.edu]

  • Hydrocephalus

    , hyperreflexia Changes in vital signs resulting from brainstem compression due to herniation Because the fontanelles of infants are still open, the accumulation of CSF can[amboss.com] Children with hydrocephalus have developmental defects of motor function, mental retardation, defective vision, and risk for epilepsy.[symptoma.com] Intelligence tests showed the man had an IQ of 75, below the average score of 100 but not considered mentally retarded or disabled, either.[web.archive.org]

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