Spinal muscular atrophy with respiratory distress type 2
MONDO:0018450Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
Also known as: SMARD2, X-linked spinal muscular atrophy with respiratory distress, diaphragmatic spinal muscular atrophy type 2, severe infantile axonal neuropathy with respiratory failure type 2
10 clinical trials for this condition and its sub-types, 0 tagged with Spinal muscular atrophy with respiratory distress type 2 itself.
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Can a stimulated muscle biopsy untangle two similar nerve and muscle diseases?
Knowledge-focused OngoingResearchers are testing a muscle biopsy method that uses mild electrical stimulation to sample the junction where nerves meet muscle. The goal is to see if this technique helps distinguish between inclusion body myositis and motor neuron disease, which can look alike. The study i…
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC
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Sniffing out Parkinson's: new study uses nose, blood, and urine to catch disease early
Knowledge-focused OngoingThis study aims to find early markers of Parkinson's disease, multiple system atrophy, and Lewy body dementia by analyzing samples from the nose, blood, and urine. Researchers will compare results from 180 people with these conditions and healthy volunteers. The goal is to improv…
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Aug 30, 2026 00:00 UTC
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Smart sleeve study aims to improve movement for nerve disease patients
Knowledge-focused By invitation onlyThis study follows 1000 people with upper motor neuron disease who are about to receive the Cionic Neural Sleeve. The sleeve uses electrical stimulation to help muscles contract at the right time during movement. Researchers will track changes in health-related quality of life us…
Sponsor: Cionic, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:04 UTC