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30 Possible Causes for Cortical Dysplasia, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Congenital Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] In view of cortical dysplasia with characteristic distribution, cerebellar abnormalities, preserved general configuration of the brain and normal ophthalmologic examination[neurologyindia.com] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Congenital Merosin-Positive Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] These were associated with bilateral occipital posterior cortical dysplasia.[actamedicaportuguesa.com] , microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia[discovery.ucl.ac.uk]

  • Autosomal Dominant Spastic Paraplegia Type 42

    onset, usually within the first or second decades of life.[jamanetwork.com] […] non-pleiotropic Spastic paraplegia 10, autosomal dominant (SPG10) [MIM: 604187 ] KIF5C O60282 non-pleiotropic Cortical dysplasia, complex, with other brain malformations[sbg.bio.ic.ac.uk] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[slc.bioparadigms.org]

  • Pseudo-Zellweger Syndrome

    Similarly, the single patient with sterol carrier protein X (SCPX, now named SCP2) deficiency first experienced neurologic symptoms in the second decade of life ( Ferdinandusse[medlink.com] , and changes similar to type 2 focal cortical dysplasia (see below).[neuropathology-web.org] Migrational abnormalities are the most likely causes of the severe seizures and psychomotor retardation associated with many types of peroxisomal disorders.[repository.innermed.eu]

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] In conclusion, our results show that merosin-deficient CMD with cortical dysplasia is due to a primary involvement of the LAh4A2 chain gene on chromosome 6q2.[vdocuments.us] Retardation, and Distinctive Facial Features 1 Cleidocranial Dysostosis 2 COACH Syndrome 2 Cockayne Syndrome Type I 2 Cockayne Syndrome, Type B 2 Coenzyme Q10 Deficiency[preventiongenetics.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms.[emedicine.medscape.com] dysplasia, complex, with other brain malformations, type 1 TUBB3 Cortical dysplasia, complex, with other brain malformations, type 5 TUBB2A Cortical dysplasia-focal epilepsy[centogene.com] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[checkrare.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] blindness-intellectual disability-polydactyly syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia-focal epilepsy syndrome[se-atlas.de] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] blindness-intellectual disability-polydactyly syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia-focal epilepsy syndrome[se-atlas.de] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability[se-atlas.de]

  • Myoadenylate Deaminase Deficiency

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood[ncbi.nlm.nih.gov] A more severe form of the disorder exists in which severe psychomotor retardation, autistic features, hypotonia, and nerve deafness also occur.[musculoskeletalkey.com]

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