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18 Possible Causes for Bilateral Leg Weakness, Creatine Kinase Normal or Increased, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    We report here a 43-year old woman with asymmetric bilateral ptosis, dysphonia, swallowing difficulties, and weakness of the distal leg muscles.[ncbi.nlm.nih.gov] Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Oculopharyngodistal myopathy is an extremely rare disease characterised by slowly progressive blepharoptosis, facial and bulbar muscle weakness and distal leg myopathy.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[ncbi.nlm.nih.gov] Laboratory results are significant for an elevated creatine kinase level of 1,423 U/L (normal 200 U/L). There was no increase of lactate on forearm nonischemic testing.[medbullets.com] Creatine kinase levels are often elevated and in young patients, it is not uncommon to measure increased serum concentrations of hepatic enzymes.[symptoma.com]

  • Inclusion Body Myositis

    X-rays of the knee joints and lower legs showed bilateral recurvatum deformity (hyperextension) and gross mediolateral instability, caused by quadriceps weakness.[mja.com.au] The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.[ncbi.nlm.nih.gov] Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500.[n.neurology.org]

  • Limb-Girdle Muscular Dystrophy

    : Proximal Serum CK: High but lower than average Pain syndrome Onset: Distal leg (calf) painful swelling without weakness or atrophy Unilateral or Bilateral No weakness or[neuromuscular.wustl.edu] […] pathology Vacuoles/ultrastructure Substances Chromatin LMNA protein, human Lamin Type A MyoD Protein MyoD1 myogenic differentiation protein PAX7 Transcription Factor PAX7[ncbi.nlm.nih.gov] Patients with congenital and mitochondrial myopathies usually present normal creatine kinase levels, and frequent ptosis.[doi.org]

  • Limb-Girdle Muscular Dystrophy Type 1E

    On physical exam, there is bilateral ptosis and atrophy of the temporalis muscle. There is weakness with turning of the neck and bilateral dorsiflexion.[medbullets.com] Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org]

  • Carnitine Deficiency

    Abstract We describe a case of a 35-year-old woman who presented with bilateral leg weakness and encephalopathy while on long-term valproate therapy.[ncbi.nlm.nih.gov] Abstract A 65-year-old man with progressive muscle weakness and liver dysfunction following massive small bowel resection showed myriad lipid-filled vacuoles in type I muscle[ncbi.nlm.nih.gov] Serum creatine kinase was increased and muscle biopsy revealed a lipid storage myopathy affecting predominantly the type I fibres.[ncbi.nlm.nih.gov]

  • Facioscapulohumeral Muscular Dystrophy

    […] paresis of arm retroversion, foot drop, minimal proximal leg and pelvic girdle weakness, striking Gothic palate, thoracic scoliosis, and lumbar hyperlordosis were seen.[jamanetwork.com] Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies,[ncbi.nlm.nih.gov] Creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic.[ncbi.nlm.nih.gov]

  • Amyotrophic Lateral Sclerosis

    Regionally isolated variants of ALS include flail arm syndrome, which involves bilateral proximal and typically predominant LMN arm weakness, and the flail leg syndrome, characterized[doi.org] Cytoplasmic vacuoles were found in the remaining anterior horn motor neurons of the lumbar spinal cord.[ncbi.nlm.nih.gov] Clinical laboratory tests that may be abnormal in otherwise typical case of ALS include [ 9 ]: • Muscle enzymes (serum creatine kinase [unusual above ten times upper limit[doi.org]

  • MELAS Syndrome

    She had bilateral leg weakness which had been stable for several years.[academic.oup.com] ) Electron microscopy showing abnormal collection of mitochondria with paracrystalline inclusions (arrowhead), osmiophilic inclusions (large arrowhead) and mitochondrial vacuoles[en.wikipedia.org] Biochemistry was normal except for increased level of serum creatine kinase (189 643, n.v 38–174 U/l).[bmcneurol.biomedcentral.com]

  • Batten-Turner Congenital Myopathy

    He had distal leg weakness with bilateral foot drop, as well as axial muscle weakness, scoliosis and spinal rigidity; additionally he required nocturnal respiratory support[nature.com] Askanas V, Serratrice G, King Engel W.), Cambridge 1998 Research Grants & Projects myopathy with rimmed-vacuole formation. adult onset nemaline myopathy[researchmap.jp] Respiratory failure is the most common cause of death in these patients.6,10,32 Creatine kinase levels are normal to mildly elevated and electromyography discloses a myopathic[the-medical-dictionary.com]

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