Myofibrillar and Distal Myopathies

Palmio, Johanna; Sainio, Markku; Välipakka, Salla; Jokela, Manu; Auranen, Mari; Paetau, Anders; Huovinen, Sanna; Lapatto, Helena; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna

doi:10.1016/j.nmd.2018.06.302

Cited by 1 publication

(3 citation statements)

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“…Myofibrillar myopathies often have systemic features including cardiac and respiratory involvement. 5,6 Most distal myopathies begin in the legs and involve either predominantly the anterior or posterior compartment, with considerable overlap. Some have a specific geographic predominance due to a population founder mutation.…”

Section: Discussionmentioning

confidence: 99%

“…MRI can be useful in narrowing down the differential diagnosis based on muscles affected. 4,6 If a specific genetic cause is suspected, gene testing should be done before muscle biopsy. When choosing genes to test, careful consideration should be given to family history, ethnicity, age at onset, and clinical site of onset.…”

Section: Discussionmentioning

confidence: 99%

“…hIBM can be differentiated from sIBM as the latter (1) typically presents at an older age, (2) more commonly has dysphagia, (3) often involves the quadriceps, (4) is more frequently asymmetric, (5) is more likely to have increased CK, (6) and has more inflammatory/immune-related changes on biopsy. 4,5,7 There are several types of hIBM.…”

Section: Discussionmentioning

confidence: 99%

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Clinical Reasoning: A 40-year-old woman presenting with distal leg weakness

et al. 2019

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A 40-year-old Caucasian woman reported 15 years of progressive lower leg and hand weakness. Weakness began asymmetrically in the legs. She had trouble standing on her toes and developed progressive bilateral foot drop, worse on the right. Over the years, she developed difficulty arising from low seats and climbing stairs. She began falling with her knees buckling bilaterally. She was a hairstylist, but stopped working about 2 years prior after the onset of weakness in her hands, including difficulty opening jars or using scissors. These symptoms progressed insidiously over the years without fluctuation.The patient's medical history was unremarkable and she was not taking medications. Neurologic review of systems was negative for visual changes, dysphagia, dysarthria, pain, stiffness, sensory changes, or bowel/bladder dysfunction. She also denied dyspnea, myalgias, exercise intolerance, or myoglobinuria. All childhood developmental milestones were appropriate. Her parents were not consanguineous and there was no reported family history of weakness or symptoms of nerve or muscle disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%