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376 Possible Causes for Psychomotor Retardation, Spasticity - Hyperreflexia

  • Hallervorden-Spatz Syndrome

    Described features include 9,11 : progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria[] Spasticity, hyperreflexia, and other signs of corticospinal tract involvement are common and eventually limit ambulation.[] Corticospinal tract involvement is common and includes spasticity, hyperreflexia, and extensor toe signs. Seizures are rare.[]

  • Pelizaeus-Merzbacher Disease

    There is gross spasticity, hyperreflexia and extensor plantar response. In severe cases, the child is unable to sit unsupported and is certainly unable to walk.[] Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid[] The typical clinical manifestations of PMD include psychomotor retardation, nystagmus, abnormal muscle tone, seizures, and cognitive impairment.[]

  • Allan-Herndon-Dudley Syndrome

    They have global developmental delays in childhood, and they display spasticity and hyperreflexia as adults.[] However, the brain is hypothyroid, causing incapacitating psychomotor retardation.[] Clinical features The disorder causes severe cognitive deficiency, infantile hypotonia that progresses to spastic quadriplegia with hyperreflexia, contractures, Babinski sign[]

  • Fucosidosis

    […] and hyperreflexia.[] In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat.[] Three sisters with adult fucosidosis showed prominent psychomotor retardation, gargoyle features, and angiokeratoma corporis diffusum, meeting the criteria for type II fucosidosis[]

  • Alexander Disease

    hyperreflexia, positive Babinski sign, gait abnormality, and weakness, though individual-to-individual and intrafamilial variability is seen [ Graff-Radford et al 2014 ].[] Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first[] However, growth, psychomotor retardation, and seizures are common features of all three groups. The diagnosis is made by MRI and genetic testing.[]

  • Aromatic L-Amino Acid Decarboxylase Deficiency

    […] clinical features suggesting spasticity.[] These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since[] Of those patients who present at the average age with the typical dystonic gait disorder, 20% also have hyperreflexia and apparent extensor plantar responses, as well as other[]

  • Infantile Neuroaxonal Dystrophy

    Clinical Onset before age three years Psychomotor regression (most common presenting feature) Early truncal hypotonia followed by spastic tetraparesis (usually with hyperreflexia[] .: Axonic and synaptic changes in a case of psychomotor retardation: An electron microscopic study. J. Neuropath. exp.[] .: Axonic and synaptic changes in case of psychomotor retardation; an electron microscopic study. J. Neuropath. exp.[]

  • Qazi-Markouizos Syndrome

    Visual impairment Peripheral neuropathy Hyperreflexia Wide nasal bridge Optic atrophy Periorbital fullness Hypoplasia of the corpus callosum Down-sloping shoulders Hypertonia[] A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.[] retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres.[]

  • 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[] Syndrome 2 Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypotonia , Infantile, With Psychomotor Retardation And Characteristic Facies 3 IFAP Syndrome With Or Without[] Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS.[]

  • 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[] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[] […] 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[]

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