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13 Possible Causes for EMG Shows Myopathic Changes, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • 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] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset X-linked spinal muscular atrophy Infantile-onset ascending hereditary spastic paralysis[se-atlas.de]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    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] EMG revealed the myopathic pattern. Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de]

  • Muscular Dystrophy-Dystroglycanopathy Type C2

    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] EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some[checkorphan.org] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de]

  • 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 EMG showed slight myopathic changes with progressive course during the ages.[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]

  • 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]

  • 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] EMG is often normal or nonspecific and muscle biopsy shows only mild nonspecific myopathic changes.[neuroweb.us] A subacute form begins during early childhood with vomiting, hypotonia, growth and psychomotor retardation.[pliem.co.za]

  • 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] EMG revealed the myopathic pattern. Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.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 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] Thus, a serum CK that is EMG shows myopathic changes: fibrillation potentials, positive waves, and myopathic MUP. Dx : Dystrophin gene is deleted.[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] Thus, a serum CK that is EMG shows myopathic changes: fibrillation potentials, positive waves, and myopathic MUP. Dx : Dystrophin gene is deleted.[sites.google.com]

  • Autosomal Dominant Mental Retardation Type 5

    Signs and Symptoms Individuals with KSS present initially in a similar way to those with typical CPEO. Onset is in the first and second decades of life.[findzebra.com] A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[medical-dictionary.thefreedictionary.com] A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation.[icd10data.com]

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