A single diagnosis can save an entire family.

Myotonic dystrophy causes health problems across the whole body, which makes it hard to diagnose. Symptoms grow more severe with each generation, so early detection matters enormously.

Nearly every diagnosis means there is a brother, sister, aunt, uncle or cousin carrying a loaded genomic gun aimed at the next generation of their family. In the most tragic version, an undiagnosed mother gives birth to a child with the congenital form. What follows is cruel: an increasingly disabled mother struggling to care for a severely disabled child.

The Myotonic Dystrophy Diagnosis Fund exists to prevent the proliferation of myotonic dystrophy by accelerating first-generation diagnosis. When the disease is found while symptoms are mild or absent, families can halt disease progression while ensuring the health of future generations via selective in-vitro fertilization.

Older thinking holds that there is no point diagnosing an untreatable genetic disease. Myotonic dystrophy negates that argument, for its onset is unpredictable, family-wide and worsens generation to generation. Everyone in an affected family should be tested — and the case has never been stronger, because therapeutics that will materially improve affected lives are coming soon.

A family living with myotonic dystrophy at home: a mother wearing an arm brace, a father, one healthy son, and one son who uses a wheelchair — A family living with myotonic dystrophy.

About myotonic dystrophy

Myotonic dystrophy is not rare. Early diagnosis is.

Myotonic dystrophy is the most common form of muscular dystrophy in adults. Its early signs — fatigue, cataracts, digestive trouble, an irregular heartbeat — are treated one at a time, by different specialists, for years before anyone connects them.

So families arrive at the answer the hard way. A severely disabled child is born, a genetic test follows within days, and a name is finally put to the disease that has been moving quietly through that child's family tree for decades.

The Fund

Financing the studies that get more doctors testing.

The Myotonic Dystrophy Diagnosis Fund finances studies designed to increase myotonic dystrophy testing by medical professionals.

$0 raised so far toward a $1,300,000 founding goal across three studies

The DM1 and FECD study Underway

Fuchs' endothelial corneal dystrophy (FECD) is an eye disease diagnosed by a routine optical exam. It affects roughly 4% of people over 40, and about 70% of cases are caused by a repeat expansion in the TCF4 gene. An unknown share is caused instead by a repeat expansion in DMPK — the mutation behind myotonic dystrophy. This IRB-approved, 500-patient, five-hospital study is underway, conducted by NYU and 3X Genetics, to determine what percentage of FECD is caused by expansions in each gene. Every patient is tested for both expansions — 1,000 assays in all.

$500,000 funding target · $0 raised

Family tree testing Active

Generating approximately 350 diagnostic tests with unprecedented precision in determining the composition and length of repeat expansions, this pilot study finances no-cost genetic counseling and testing for 100 myotonic patients and their families — each patient plus, on average, two or three relatives — including optional enrollment by parents, siblings, aunts, uncles and first cousins. Foremost, this active study is designed to diagnose myotonic dystrophy in the highest-risk population — relatives of an existing patient. It will also provide researchers with a robust dataset to assess the composition and length distribution of the DMPK expansion within diagnosed patients and their families.

$400,000 funding target · $0 raised

GI patient diagnostic testing Proposed

The first noticeable symptom of myotonic dystrophy is often gastrointestinal — difficulty swallowing, or slow motility. This proposed 500-patient study across four hospitals will measure the prevalence of myotonic dystrophy among patients already being treated for GI conditions.

$400,000 funding target · $0 raised

Reporting

Every study publishes.

Each study publishes scientific data that may accelerate the diagnosis of myotonic dystrophy.