Congenital myopathy with myasthenic-like onset
MONDO:0018528Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.
Also known as: congenital myopathy with myasthenic-like onset
6 clinical trials for this condition and its sub-types.
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New handheld scanner could replace MRI for muscle disease monitoring
Diagnosis Recruiting nowThis study is testing a handheld device called mScan that uses a tiny, painless electrical current to measure muscle health. Researchers want to see if it can give similar results to an MRI, but faster and more conveniently. The study involves 150 adults with and without muscle d…
Sponsor: Beth Israel Deaconess Medical Center • Aim: Diagnosis
Last updated Jun 27, 2026 12:03 UTC
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Virtual park cycling could slow muscle decline in children
Symptom relief Recruiting nowThis study tests whether cycling while using a virtual park app can slow the loss of motor function in children and teens with neuromuscular diseases like muscular dystrophy. Twenty-two participants will first receive standard care for 3 months, then use the virtual park bike 3 t…
Phase: NA • Sponsor: Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato • Aim: Symptom relief
Last updated Aug 13, 2026 00:00 UTC
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Simple blood test may predict muscle disease severity
Knowledge-focused Recruiting nowThis study is looking at whether a molecule in the blood called miR-1 can help doctors understand how muscle diseases like Duchenne muscular dystrophy and myotonic dystrophy are progressing. Researchers will compare miR-1 levels in 104 people, including patients with different mu…
Phase: NA • Sponsor: University Hospital, Clermont-Ferrand • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
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New study tracks rare muscle disease to pave way for future treatments
Knowledge-focused Recruiting nowThis study follows 150 people aged 7 and older with RYR1-related muscle disorders for 3 to 5 years. Researchers will collect medical history, perform physical exams, and use questionnaires, activity trackers, and tests of heart, lung, and muscle function. The goal is to better un…
Sponsor: National Institutes of Health Clinical Center (CC) • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC
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Wearable tech tracks fatigue in muscle disease patients
Knowledge-focused Recruiting nowThis study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…
Sponsor: IRCCS Eugenio Medea • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC