Traits

Traits linked to DES

desmin

The Human Phenotype Ontology links 55 traits to DES, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Axial muscle weakness	Very often (80–99%)
Progressive muscle weakness	Very often (80–99%)
Scapuloperoneal weakness	Very often (80–99%)
Decreased lung function due to weak breathing muscles	Often (30–79%)
Fatigable weakness of respiratory muscles	Often (30–79%)
Rimmed vacuoles	Often (30–79%)
Z-band streaming	Often (30–79%)
EMG abnormality	Sometimes (5–29%)
Fatigable weakness of bulbar muscles	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Neck flexion weakness	Sometimes (5–29%)
Thoracic kyphoscoliosis	Sometimes (5–29%)
Reduced spine movement	Rarely (1–4%)
Bulbar palsy	Not recorded
EMG: myopathic abnormalities	Not recorded
Late-onset proximal muscle weakness	Not recorded
Neck muscle weakness	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Left ventricular systolic dysfunction	Very often (80–99%)
Stretched and thinned heart muscle	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Cardiac failure	Often (30–79%)
Concentric hypertrophic cardiomyopathy	Often (30–79%)
Enlarged heart	Often (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Often (30–79%)
Reduced left ventricular ejection fraction	Often (30–79%)
Reduced systolic function	Often (30–79%)
Supraventricular arrhythmia	Often (30–79%)
Complete heart block	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Restrictive cardiomyopathy	Sometimes (5–29%)
Slow heartbeats	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Very often (80–99%)
Shoulder girdle muscle wasting	Very often (80–99%)
Areflexia of lower limbs	Sometimes (5–29%)
Foot drop	Sometimes (5–29%)
Club feet	Not recorded
Hyporeflexia of lower limbs	Not recorded
Peroneal muscle atrophy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)
Constipation	Not recorded
Diarrhea	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Weakness of facial musculature	Sometimes (5–29%)
Bell's palsy	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Loss of ability to walk	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to DES and how often each is seen. Find out more at hpo.jax.org.

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