Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
MONDO:0014784Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
Also known as: IHPMR, hypotonia, infantile, with psychomotor retardation
4 clinical trials for this condition and its sub-types, 0 tagged with Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
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
-
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…
Sponsor: Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato • Aim: Symptom relief
Last updated Aug 13, 2026 00:00 UTC
-
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…
Sponsor: University Hospital, Clermont-Ferrand • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
-
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