Signs and Symptoms

What to look for?

A variety of signs and symptoms can indicate a diagnosis of Duchenne Muscular Dystrophy (DMD). Typically, they can be categorized into physical characteristics, developmental milestones, and elevations of specific laboratory results.

Physical Characteristics

Children with Duchenne appear normal and healthy at birth – but signs of muscle weakness become apparent between the ages of 2 and 4. Early muscle weakness can be seen with physical characteristics such as enlarged calf muscles – which is the most common trait with Duchenne patients – they also display signs of a waddling gait and toe walking (Pseudo hypertrophy). The calf enlargement is caused by the accumulation of fat and connective fibrous tissues – which develop in the areas where the muscle fibres have become damaged over time.

Gower’s Maneuver

When the child begins to have difficulty standing up, they may perform a Gower’s maneuver or “Gower sign”. This maneuver helps the child to get from the ground or sitting position up to a standing one. It is performed by setting up a wide stance and then using their hands and arms to “climb” up their legs until they reach an upright position, keeping the head in a front-facing and upright position.

Quade doing the Gower’s Maneuver, you go boy!

Creating awareness for DMD

When you have a newly diagnosed family the diagnosis and all of the information can feel overwhelming.
Join us on our journey in creating awareness about Duchenne Muscular Dystrophy and help one family at a time in their discovery process.

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Developmental Milestones

Children with Duchenne often present delays when reaching developmental milestones. Postponement in motor development such as crawling, walking, running, and climbing stairs could be noticeable. There may also be frequent falls, difficulty when running, clumsiness, or trouble standing, with other key indicators in speech and language development may forming part of the developmental concerns within someone affected by Duchenne. Each child is unique and may show some, if not all of these features. Symptoms can also range in severity, from mild to severe.

Laboratory Values

Creatine Kinase

Certain laboratory values are indicative of Duchenne. Creatine Kinase (CK), also referred to as Creatine Phosphokinase (CPK), is an enzyme found in muscle. CK is released into the bloodstream as muscle cells become damaged. The amount of CK in the blood can vary based on several factors; but typically, levels are extremely elevated in the blood of individuals with Duchenne (Normal CK levels in adults for men and woman is approximately 20 – 30 U/L), especially at an early age.

Liver Enzymes

Liver function tests that detect unusually high liver enzymes, specifically Aspartate transaminase (AST), also referred to as serum glutamic oxaloacetic transaminase (SGOT), and Alanine transaminase (ALT), also known as serum glutamic pyruvic transaminase (SGPT), may indicate Duchenne. Values are likely to be elevated (in the hundreds) in individuals with Duchenne.