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Megaconial type congenital muscular dystrophy

Just diagnosed with Megaconial type congenital muscular dystrophy?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Megaconial type congenital muscular dystrophy, look for clinical trials, and connect with others living with it — all in one place.

Open the full Megaconial type congenital muscular dystrophy hub →

Overview

Megaconial type congenital muscular dystrophy is a rare condition. Also known as Congenital megaconial myopathy, Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, Congenital muscular dystrophy with mitochondrial structural abnormalities. Tomeko brings together the specialists, research, clinical trials, treatments and community for Megaconial type congenital muscular dystrophy so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:280671 · OMIM 602541 · ICD-10 G71.2 · GARD 0010317

Find care for Megaconial type congenital muscular dystrophy

Authoritative references for Megaconial type congenital muscular dystrophy

Common questions

I was just diagnosed with Megaconial type congenital muscular dystrophy — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Megaconial type congenital muscular dystrophy, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Megaconial type congenital muscular dystrophy?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Megaconial type congenital muscular dystrophy, filtered to your area.

Are there clinical trials for Megaconial type congenital muscular dystrophy?

Tomeko shows live, recruiting studies for Megaconial type congenital muscular dystrophy from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com