Duchenne | and you

When is the Right Time to Talk to a Doctor?

_

Helping your doctor reach a diagnosis

Take these three steps to prepare for the doctor’s visit and help them determine whether it is DMD or another condition;

Helping your doctor reach a diagnosis

Understanding your family’s history of muscle disease and other conditions can help your doctor reach a diagnosis.

Keep a journal of your child’s or young person’s symptoms

Write down any symptoms you have noticed. You may use the doctor’s appointment discussion guide.

Take photos or videos

Bring photos or videos to help your doctor gain a better understanding of the signs and symptoms you have observed.

How early diagnosis helps kids with DMD

The earlier a doctor makes a diagnosis, the sooner a child with DMD can start getting medical care and treatment. Getting care early gives doctors the best chance of slowing down the disease and helping to preserve muscle function for as long as possible.

Early diagnosis means that a child with DMD may receive important help sooner:

  • Accessing specialist clinics and doctors
  • Starting treatment
  • Testing for family members to find out the risk of DMD in any future pregnancies
  • Getting genetic counseling
  • Applying for financial assistance
  • Planning for home care
  • Enrolling in clinical trials of new treatments
  • Receiving support from local patient organizations, and connecting with other affected families
en_USEnglish
es_MXSpanish en_USEnglish

You are about to view a website that PTC Therapeutics has not reviewed for accuracy, relevance or completeness.

PTC Therapeutics does not endorse organizations that sponsor linked external websites, products, or services that such organizations may offer; and does not control or guarantee the currency, accuracy, relevance or completeness of the information found on the linked external sites.

All trademarks includes herein are the property of their respective owners.

Continue
Cancel

Why Sign Up?

Sign up to receive the latest information from the Duchenne muscular dystrophy community. Be the first to receive:

News alerts

Content updates

Latest resources

Ongoing support

Name

Email

Country

Address

Have you been diagnosed with DMD?

What type of DMD mutation do you have?

This site is intended for US residents only.
The information on this site is not intended to make a diagnosis or to take the place of talking to a US health care professional.

PTC Cares™ is a trademark of PTC Therapeutics.
© 2022 PTC Therapeutics, Inc. All rights reserved.

Date of preparation: September 2022
MAT-CORP-0268

Terms and conditions

Important Terms and Concepts

Basic terms and key definitions

Neuromuscular disorders

Neuromuscular disorders affect the muscles and nerves, and most of the causes are genetic. This means they are either passed down through the family or caused by changes in an individual person’s genes.

Most neuromuscular disorders cause muscle weakness that worsens over time. Signs and symptoms of neuromuscular diseases can vary and may be mild, moderate, or severe.

Most often, when a child has a neuromuscular disease, they don’t grow and develop as fast as other children their age. They are often slow to start lifting their head, sitting, walking, and talking.

Treatment and supportive care may improve the symptoms of a neuromuscular disorder, increasing mobility and even life expectancy.

Muscular dystrophy

Muscular dystrophy is the term for a group of neuromuscular disorders that cause muscle weakness and muscle loss.

Duchenne muscular dystrophy (DMD) is a type of muscular dystrophy that causes muscle weakness that worsens over time. The progression and symptoms can vary from person to person.