Create issue ticket

2,262 Possible Causes for Muscle Biopsy Shows Dystrophic Changes, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Limb-Girdle Muscular Dystrophy Type 2J

    Dystrophies are a group of non-inflammatory hereditary conditions which show dystrophic changes (increased connective tissue, fiber splitting) on biopsy without degeneration[lecturio.com] 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]

  • Congenital Merosin-Positive Muscular Dystrophy

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] 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] , microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia[discovery.ucl.ac.uk]

  • Congenital Muscular Dystrophy

    Serum creatine kinase was elevated, muscle biopsy showed dystrophic changes, and there were abnormalities in brain MRI.[ncbi.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]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Cranial magnetic resonance imaging showed cerebellar cysts and hypoplasia of the vermis and muscle biopsy showed dystrophic changes.[cags.org.ae] CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy.[diseaseinfosearch.org] . • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities of variable specificity.[medlink.com]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Muscle biopsy showed dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan.[link.springer.com] 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-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 C14

    Dystrophies are a group of non-inflammatory hereditary conditions which show dystrophic changes (increased connective tissue, fiber splitting) on biopsy without degeneration[lecturio.com] 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 morphology of muscles.[lecturio.com]

    Missing: Psychomotor Retardation
  • Limb-Girdle Muscular Dystrophy Type 2B

    Dystrophies are a group of non-inflammatory hereditary conditions which show dystrophic changes (increased connective tissue, fiber splitting) on biopsy without degeneration[lecturio.com] 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 morphology of muscles.[lecturio.com]

    Missing: Psychomotor Retardation
  • Distal Myopathy Type 3

    The electromyography showed myopathic pattern and the muscle biopsy disclosed dystrophic changes with absence of dysferlin.[ruralneuropractice.com] 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] Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com]

    Missing: Psychomotor Retardation
  • Congenital Muscular Dystrophy Type 1A

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] 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] His echocardiogram showed normal findings [Figure 2] . His serum CPK level was 2120 U/l and MRI of the brain showed similar findings with other patients.[pediatricneurosciences.com]

    Missing: Psychomotor Retardation
  • Muscular Dystrophy-Dystroglycanopathy Type C5

    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]

    Missing: Psychomotor Retardation

Similar symptoms