Rare case of congenital myopathy associated with the FXR1 gene
نویسندگان
چکیده
Case presentation: A.M.M., 14 years old, consanguineous parents; term, pregnancy and delivery without complications, mother history of abortion. Healthy parents, 19-year-old sister healthy 12-year-old brother. At 4 months, the noticed absence head support, difficulty in sucking swallowing. She evolved with repeated hospitalizations due to aspiration pneumonia. 10 months she sat up support; did not crawl at 15 walked support. acquired independent gait 2 age, but had many falls, stood help her arms climb steps. Cognitive apparently preserved. age 5, was often tired on short-distance walks needed bipap assistance during sleep. always carried by parents get around, weakness frequent so 7 started using a wheelchair. eat solid food choking. 8 only through gastrostomy. scoliosis significant lordosis, winged scapula, axial appendicular hypotonia, dropped head, grade muscle strength proximal upper limb distal lower limb, 3 limb. Hypoactive osteotendinous reflexes, signs pyramidal release. Broad DNA panel for neuromuscular diseases requested, rare mutation identified FXR1 gene homozygosis.
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ژورنال
عنوان ژورنال: Arquivos De Neuro-psiquiatria
سال: 2023
ISSN: ['1678-4227', '0004-282X']
DOI: https://doi.org/10.1055/s-0043-1774517