Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
MONDO:0013160An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
Also known as: congenital muscular dystrophy-POMT2 related, congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2, congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2, MDDGB2, muscular dystrophy, congenital, Pomt2-related, muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2, muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
5 clinical trials for this condition and its sub-types, 0 tagged with Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 itself.
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Mind-Controlled tablets: brain implant trial aims to give voice to the paralyzed
Disease control Recruiting nowThis early-stage trial tests a brain-computer interface called BrainGate for people with paralysis from conditions like ALS or spinal cord injury. A small sensor is placed in the brain to interpret movement-related signals, allowing users to control a tablet computer just by thin…
Sponsor: Leigh R. Hochberg, MD, PhD. • Aim: Disease control
Last updated Jun 27, 2026 14:01 UTC
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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…
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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Massive study seeks answers for rare inherited nerve diseases
Knowledge-focused Recruiting nowThis study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 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