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11 Possible Causes for Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation, Reduced Fetal Movement

  • 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] The pregnancy history displays reduced fetal movements and poli-hydramnios. Clinical signs are present at birth.[doi.org] 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] Onset is often at birth with congenital proximal contractures and arthrogryposis caused by reduced fetal movements, hypotonia, and early hyperlaxity of distal joints (Figure[academlib.com] , microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia[discovery.ucl.ac.uk]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies.[checkorphan.org] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[checkrare.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] 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]

  • Emery-Dreifuss Muscular Dystrophy Type 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] They have also been reported in a family with arthrogryposis multiplex congenita, which is characterized by congenital joint contractures, reduced fetal movements, clubfoot[emerydreifussmd.org] 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]

  • Proximal Myopathy with Extrapyramidal Signs

    The prognosis is most favorable when the onset of symptoms occurs after the second decade of life.[intranet.tdmu.edu.ua] A subacute form begins during early childhood with vomiting, hypotonia, growth and psychomotor retardation.[pliem.co.za] retardation, and stupor.[usmle.net]

  • Autosomal Dominant Myoglobinuria

    A late-onset myotubular myopathy has been also reported, which presents with milder symptoms during childhood that worsen after the first or second decade of life and that[intechopen.com] In utero, reduced fetal movements, polyhdramnios Hypotonia and weakness at birth, or in early childhood Ptosis, EOM weakness, hypotonia, facial, pharyngeal, laryngeal, and[sites.google.com] Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.[selfdecode.com]

  • Myoglobinuria

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.[selfdecode.com] In utero, reduced fetal movements, polyhdramnios Hypotonia and weakness at birth, or in early childhood Ptosis, EOM weakness, hypotonia, facial, pharyngeal, laryngeal, and[sites.google.com]

  • Lethal Muscular Hypertonia

    The average age at which symptoms first appear is 28, but onset can occur anywhere from the second to the fifth decades of life.[ulf.org] fetal movements, and severe motor paralysis leading to death early in the neonatal period ( Laquerriere et al., 2014 ).For a general phenotypic description and a discussion[mendelian.co] The other one had brachycephaly, and psychomotor retardation.[tmj.ro]

  • Autosomal Dominant Centronuclear Myopathy

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] […] signs include polyhydramnios, reduced fetal movement and thinning of the ribs Large head circumference and length 90th percentile Cryptorchidism, pyloric stenosis and hepatic[pathologyoutlines.com] The prognosis in CDM is more favorable that the patient can survive into early adulthood but many patients suffer from psychomotor retardations.[path.upmc.edu]

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