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16 Possible Causes for Muscle Biopsy showing Presence of Vacuoles, Poor Feeding

  • Glycogen Storage Disease Type 2

    Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com] Muscle biopsy in Pompe disease shows the presence of vacuoles that stain positively for glycogen.[dx.doi.org] Symptoms : Difficulty in feeding Difficulty in hearing Feeling distress during normal respiratory activity Non – classical infantile onset Second form of disease i.e. the[foodnhealth.org]

  • Hypokalemic Periodic Paralysis

    Weakness is usually evident at birth or within the first year or 2 of life and is characterized by feeding difficulties, ptosis, impaired eye movements, and delayed motor[doi.org] difficulty Weakness Severe Axial & Generalized Respiratory Face Course: Slow progression Ophthalmoplegia (40%) Skeletal Palate: High arched Scoliosis (60%) Cardiac: Normal[neuromuscular.wustl.edu] […] protein effects CACNA1S levels: Reduced Ca release induced by depolarization: Impaired Clinical Onset age: Neonatal Hypotonia: Perinatal Motor, early Development: Delayed Feeding[neuromuscular.wustl.edu]

  • Myositis

    […] growth, poor feed use, reduced milk production, lameness, wool and hair loss, abortion, carcass condemnation at meat inspection, as well as death.[dx.doi.org] In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com] […] that infect agricultural and companion animals, such as cattle, sheep, and horses, are of economic importance because they cause illness that results in fever, lethargy, poor[dx.doi.org]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    difficulty Weakness Severe Axial & Generalized Respiratory Face Course: Slow progression Ophthalmoplegia (40%) Skeletal Palate: High arched Scoliosis (60%) Cardiac: Normal[neuromuscular.wustl.edu] In periodic paralysis muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.[ajns.paans.org] […] protein effects CACNA1S levels: Reduced Ca release induced by depolarization: Impaired Clinical Onset age: Neonatal Hypotonia: Perinatal Motor, early Development: Delayed Feeding[neuromuscular.wustl.edu]

  • Distal Myopathy Type 3

    The clinical phenotype associated with a neonatal onset can include feeding difficulties, poor suck and cry, choking spells, eyelid ptosis, and muscle weakness.[mayomedicallaboratories.com] The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.[scielo.br] Neonatal forms present with dysmorphic features, contractures, arthrogryposis, generalized hypotonia, feeding difficulties, and respiratory problems.[sites.google.com]

  • Paramyotonia Congenita

    PARALYSIS PERIODICA PARAMYOTONICA PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED Classification genetic, neurological Phenotypes Autosomal dominant inheritance ; Feeding[mousephenotype.org] Muscle biopsy - A muscle biopsy showing vacuoles confirms the presence of non-specific myopathy; however, it does not confirm a diagnosis of paramyotonia congenita.[symptoma.com] Patient 3 is 6-year-old girl who after a normal perinatal history developed stridor and feeding difficulties from 10 days of age.[pediatrics.aappublications.org]

  • Proximal Myopathy with Extrapyramidal Signs

    […] from all or some of the following: mental retardation and retardation of bone maturation, short stature with muscle weakness, respiratory difficulties, cyanosis, jaundice, poor[boardprep.net] Muscle biopsy shows the presence of vacuoles, containing glycogen, in muscle fibers, which are present during an attack, and which may decrease in number immediately after[intranet.tdmu.edu.ua] From early infancy, symptoms of the condition include poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, ketoacidosis, opisthotonus, pancreatitis, coma and[pliem.co.za]

  • Fingerprint Body Myopathy

    Affected infants are very weak and have major feeding difficulties, facial diplegia, bilateral ptosis, and limitation of eye movements (external ophthalmoplegia).[neupsykey.com] Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.[basicmedicalkey.com] Other problems can include feeding difficulties as an infant, facial weakness, long narrow face, high arched palate, kyphoscoliosis, and respiratory failure.[emedicine.medscape.com]

  • Alternating Hemiplegia of Childhood

    Specific issues that might need an admission include feeding difficulties causing dehydration, breathing problems and concerns about chest infections or seizures.[gosh.nhs.uk] Vascular abnormalities were found in both skin and muscle. Skin biopsies showed similar abnormalities in all four patients. Vacuoles were visible in the endothelium.[ncbi.nlm.nih.gov] The most striking abnormality was the presence in the tunica media of small and unevenly shaped vascular smooth muscle cells (VSMCs) containing intracytoplasmic vacuoles and[ncbi.nlm.nih.gov]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    Other problems can include feeding difficulties as an infant, facial weakness, long narrow face, high arched palate, kyphoscoliosis, and respiratory failure.[emedicine.medscape.com] Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.[basicmedicalkey.com] All except 1 had onset from birth of neonatal hypotonia and weakness, and most had feeding difficulties. Decreased fetal movements were often reported.[bio2rdf.org]

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