Create issue ticket

12 Possible Causes for Cerebellar Hypoplasia, Jaundice, Muscle Biopsy Shows Dystrophic Changes

  • Congenital Muscular Dystrophy

    […] infections of the brain and its parts like meningitis or encephalitis Kernicterus – This condition is severe affliction of the brain of the new born with bilirubin from the jaundice[news-medical.net] Serum creatine kinase was elevated, muscle biopsy showed dystrophic changes, and there were abnormalities in brain MRI.[ncbi.nlm.nih.gov] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    […] infections of the brain and its parts like meningitis or encephalitis Kernicterus – This condition is severe affliction of the brain of the new born with bilirubin from the jaundice[news-medical.net] Cranial magnetic resonance imaging showed cerebellar cysts and hypoplasia of the vermis and muscle biopsy showed dystrophic changes.[cags.org.ae] […] brainstem hypoplasia and more extensive cerebellar dysplasia or hypoplasia.[jamanetwork.com]

  • Limb-Girdle Muscular Dystrophy Type 1H

    Granulosa cell cancer Granulosa cell malignant tumor Gravidic intrahepatic cholestasis Gray platelet syndrome Grayson-Wilbrandt corneal dystrophy Greenberg dysplasia Green jaundice[orpha.net] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013 ).For a phenotypic description and[mendelian.co] LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.[abcam.com]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    […] nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice[books.google.com] LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.[abcam.com] hypoplasia, retinitis pigmentosa Fanconi anemia 17 FANCA, FACA, FA1, FA, FAA Anemia, leucopenia, thrombocytopenia; cardiac, renal and limb malformations; dermal pigment changes[endocrine.gr]

  • Fatal Infantile Hypertonic Myofibrillar Myopathy

    Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice.[mendelian.co] Soft Tissue - Endomysial fibrosis - Rigidity - Muscle biopsy shows dystrophic changes - Granular deposits in the sarcomeres - Stiffness - Z-band streaming - Muscle hypertonicity[mnglabs.com] hypoplasia CAVEOLIN-3 GENE Limb-girdle muscular dystrophy type 1C Tateyama type of distal myopathy CEP152 gene Autosomal recessive primary microcephaly-4 Seckel syndrome-[julesberman.blogspot.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Her skin was warm, dry, and fair; no lesions, rashes, ecchymosis, cyanosis, or jaundice were noted. She had good turgor and a capillary refill of less than 2 seconds.[the-medical-dictionary.com] Muscle Histopathology shows nonspecific myopathic or dystrophic changes: variation in fiber size, increase in internal nuclei, increase in endomysial connective tissue, necrotic[physio-pedia.com] With Spinal Muscular Atrophy And Cerebellar Hypoplasia PCH1C 0 616081 Genetic Test Registry Scapuloperoneal Spinal Muscular Atrophy Amyotrophy, Neurogenic Scapuloperoneal[ukgtn.nhs.uk]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Abnormal electroretinogram Absent nares Hypoplasia of the olfactory bulb Keratoconus Inguinal hernia Hyperbilirubinemia Increased intracranial pressure Prolonged neonatal jaundice[mendelian.co] Electromyography showed a myopathic pattern, and serum creatine kinase was mildly elevated. Muscle biopsy showed chronic dystrophic changes.[genome.jp] hypoplasia, retinitis pigmentosa Fanconi anemia 17 FANCA, FACA, FA1, FA, FAA Anemia, leucopenia, thrombocytopenia; cardiac, renal and limb malformations; dermal pigment changes[endocrine.gr]

  • Vacuolar Neuromyopathy

    There was no history of malena, significant weight loss, anorexia, vomiting, fever or jaundice.[ghrnet.org] Cortical malformations and cerebellar abnormalities have been observed but are much less common.[ojrd.biomedcentral.com] […] addition to agenesis of the corpus callosum, one of the five principal diagnostic features of Vici syndrome, other consistent radiological abnormalities include pontine hypoplasia[ojrd.biomedcentral.com]

  • Congenital Disorder of Glycosylation Type 1D

    SLC2A1( GLUT1) is reported by p33 jaundice steps, efficiently general enterocytes, hydroxybenzoic phosphatase states and cells of the Glucose. 5 download Dynamics of the)[evakoch.com] . • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities of variable specificity.[medlink.com] hypoplasia, and retinitis pigmentosa.[genecards.org]

  • Autosomal Dominant Mental Retardation Type 5

    Bursitis NEW ALGORITHMS INCLUDE Amenorrhea, Primary Amenorrhea, Secondary Back Pain, Acute Bleeding, Gastrointestinal Breast Mass Dyspepsia Fatigue Hypernatremia Hypocalcemia Jaundice[books.google.ro] […] type 2 fibers; Muscle biopsy shows no dystrophic changes PRENATAL MANIFESTATIONS: [Amniotic fluid]; Polyhydramnios MISCELLANEOUS: Most affected males die of respiratory failure[findzebra.com] hypoplasia Inheritance Condition Features Autosomal Dominant Cerebellar Vermis Aplasia Female Sex Bias Autosomal recessive Cerebellar hypoplasia with or without retinal pigment[en.wikibooks.org]

Similar symptoms