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40 Possible Causes for Onset of Symptoms in First or Second Decade of Life, Progressive Mental Retardation, Psychomotor Retardation

  • Hallervorden-Spatz Syndrome

    It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation.[whonamedit.com] There is an early onset classic form with symptoms of extrapyramidal disease beginning in the first decade of life and rapid progression to loss of ambulation in about 15[disorders.eyes.arizona.edu] At about 1 1/2 years of age the patients with Hallerworden‐Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation[doi.org]

  • Tay-Sachs Disease

    Late-onset Tay-Sachs disease (chronic form) is a rare variant phenotype with appearance of first symptoms during the second or third decade of life. 4 A juvenile form is also[doi.org] It is characterized by progressive mental and physical retardation and early death.[medical-dictionary.thefreedictionary.com] The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 42

    Página 390 - Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72, 373-381. ‎[books.google.es] onset, usually within the first or second decades of life.[jamanetwork.com] 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] […] with mental retardation , see Northern epilepsy progressive external ophthalmoplegia progressive familial heart block progressive familial intrahepatic cholestasis progressive[herenciageneticayenfermedad.blogspot.com] Migrational abnormalities are the most likely causes of the severe seizures and psychomotor retardation associated with many types of peroxisomal disorders.[repository.innermed.eu]

  • Congenital Muscular Dystrophy

    , with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular[ghr.nlm.nih.gov] 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] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    The weakness usually progresses slowly and life expectancy is normal. Mental retardation is common and there may be abnormalities of cardiac rhythm.[dartmouth.edu] 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] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[checkrare.com]

  • Spastic Paraplegia

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] SPG47 AP4B1 1p13.2 AP-4 complex subunit beta-1 Complicated: neonatal hypotonia, progressive hypertonia, severe mental retardation, ataxia, seizures, TCC.[scielo.br] Retardation and Characteristic Facies 2 AR 616801 Mast Syndrome AR 248900 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534 Neuropathy, Hereditary Sensory[preventiongenetics.com]

  • 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] Mental Retardation / Batten Disease – Northern Epilepsy CLN10 Disease Cathepsin D Deficiency Congenital Disorders of Glycosylation CDG Congenital Erythropoietic Protoporphyria[climb.org.uk] 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]

  • Hereditary Spastic Paraplegia

    We describe two siblings from an Arabic consanguineous family with slowly progressive spastic paraparesis, mental retardation, seizures, thin corpus callosum and periventricular[ncbi.nlm.nih.gov] Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] Retardation and Characteristic Facies 2 AR 616801 Mast Syndrome AR 248900 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534 Neuropathy, Hereditary Sensory[preventiongenetics.com]

  • Limb-Girdle Muscular Dystrophy Type 2J

    […] occasional mild mental retardation.[icd10data.com] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de] Facial dysmorphic features and mental retardation may occur, though brain MRIs are normal.[emedicine.medscape.com]

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