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	Hvor ofte den forekommer
Axial muscle weakness	Svært ofte (80–99 %)
Progressive muscle weakness	Svært ofte (80–99 %)
Scapuloperoneal weakness	Svært ofte (80–99 %)
Decreased lung function due to weak breathing muscles	Ofte (30–79 %)
Fatigable weakness of respiratory muscles	Ofte (30–79 %)
Rimmed vacuoles	Ofte (30–79 %)
Z-band streaming	Ofte (30–79 %)
EMG abnormality	Noen ganger (5–29 %)
Fatigable weakness of bulbar muscles	Noen ganger (5–29 %)
Loss of fat tissue in localized area	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)
Neck flexion weakness	Noen ganger (5–29 %)
Thoracic kyphoscoliosis	Noen ganger (5–29 %)
Reduced spine movement	Sjelden (1–4%)
Bulbar palsy	Ikke registrert
EMG: myopathic abnormalities	Ikke registrert
Late-onset proximal muscle weakness	Ikke registrert
Neck muscle weakness	Ikke registrert
Weakness of outermost muscles	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Left ventricular systolic dysfunction	Svært ofte (80–99 %)
Stretched and thinned heart muscle	Svært ofte (80–99 %)
Abnormal heart rate	Ofte (30–79 %)
Cardiac failure	Ofte (30–79 %)
Concentric hypertrophic cardiomyopathy	Ofte (30–79 %)
Enlarged heart	Ofte (30–79 %)
Interruption of electrical communication between upper and lower chambers of heart	Ofte (30–79 %)
Reduced left ventricular ejection fraction	Ofte (30–79 %)
Reduced systolic function	Ofte (30–79 %)
Supraventricular arrhythmia	Ofte (30–79 %)
Complete heart block	Noen ganger (5–29 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)
Restrictive cardiomyopathy	Noen ganger (5–29 %)
Slow heartbeats	Noen ganger (5–29 %)
Sudden cardiac death	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Distal lower limb muscle weakness	Svært ofte (80–99 %)
Shoulder girdle muscle wasting	Svært ofte (80–99 %)
Areflexia of lower limbs	Noen ganger (5–29 %)
Foot drop	Noen ganger (5–29 %)
Club feet	Ikke registrert
Hyporeflexia of lower limbs	Ikke registrert
Peroneal muscle atrophy	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Poor swallowing	Noen ganger (5–29 %)
Constipation	Ikke registrert
Diarrhea	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Weakness of facial musculature	Noen ganger (5–29 %)
Bell's palsy	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Abnormal gait	Ofte (30–79 %)
Loss of ability to walk	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Exertional breathlessness	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Thromboembolic stroke	Noen ganger (5–29 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Enlarged male breast	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fluid retention	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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