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🔗 CustomizeMedical Overview of Congenital Myopathy With Reduced Type 2 Muscle Fibers
Sources citedA rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.
Classification & codes: GARD 0017989 · Orphanet ORPHA:544602 · OMIM 618414 · ICD-10 G71.2
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens
3 open trials match this profile
Locations in NC, FL and GA.
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Care & management overview — Congenital Myopathy With Reduced Type 2 Muscle Fibers
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Congenital Myopathy With Reduced Type 2 Muscle Fibers News & Developments
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Companies Developing Treatments
Biopharma companies with registered trials for Congenital Myopathy With Reduced Type 2 Muscle Fibers — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Mental Health Toolkit
Sources citedCoping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Congenital Myopathy With Reduced Type 2 Muscle Fibers — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Certified Centers of Excellence
CFF networkCare centers and specialists for Congenital Myopathy With Reduced Type 2 Muscle Fibers, from Tomeko’s verified provider directory (CMS NPPES).
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Patient & Family Guides
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Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.