Autosomal recessive limb-girdle muscular dystrophy type 2K
MONDO:0012248Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
Also known as: LGMD-POMT1 related, LGMD2K, MDDGC1, POMT1 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1, limb-girdle muscular dystrophy-intellectual disability syndrome, muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1, limb-girdle muscular dystrophy - intellectual disability
7 clinical trials for this condition and its sub-types, 1 tagged with Autosomal recessive limb-girdle muscular dystrophy type 2K 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
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Major study aims to better measure muscular dystrophy progression
Knowledge-focused Recruiting nowThis 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …
Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:57 UTC