Congenital muscular dystrophy due to LMNA mutation
MONDO:0013178Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
Also known as: L-CMD, LMNA congenital muscular dystrophy, LMNA-related congenital muscular dystrophy, congenital muscular dystrophy caused by mutation in LMNA, muscular dystrophy Congenital, LMNA-related, muscular dystrophy, congenital, MDCL, muscular dystrophy, congenital, LMNA-related
41 clinical trials for this condition and its sub-types.
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Desperate hope: stem cells tested on one child with rare muscle disease
Disease control NO_LONGER_AVAILABLEThis trial gives a single child with a rare form of congenital muscular dystrophy access to their own banked stem cells. The cells are given through 14 IV infusions to see if they are safe and can help control the disease. Because it involves only one patient, the results will be…
Sponsor: Hope Biosciences Research Foundation • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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Weekly Check-Ins could boost patient satisfaction for chronic pain
Knowledge-focused TerminatedThis study looked at whether having more frequent contact with a clinician (at least once a week) improves satisfaction for people with long-lasting musculoskeletal conditions. Participants were split into two groups: one with standard contact and one with extra check-ins via tex…
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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Can a special clinic get workers back on the job faster? norway launches massive study.
Knowledge-focused OngoingThis study tests whether a Norwegian clinic (NSAC) helps people with common mental health issues or muscle pain return to work sooner. 2500 adults are split into three groups: one gets treatment quickly, one waits 10-14 weeks, and one gets a basic check-up. Researchers will track…
Phase: NA • Sponsor: Nordlandssykehuset HF • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Massive PT study mines 4 million records to find what works best
Knowledge-focused OngoingThis study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …
Sponsor: ATI Holdings, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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Phone app vs. doctor: can a mobile tool catch infections after surgery?
Knowledge-focused TerminatedThis study aimed to see if a mobile monitoring tool could accurately identify surgical site infections (SSIs) in orthopedic surgery patients, compared to the usual manual review. The study was withdrawn before enrolling any participants, so no results are available. It was design…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC