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	Kaip dažnai pasireiškia
Axial muscle weakness	Labai dažnai (80–99%)
Progressive muscle weakness	Labai dažnai (80–99%)
Scapuloperoneal weakness	Labai dažnai (80–99%)
Decreased lung function due to weak breathing muscles	Dažnai (30–79%)
Fatigable weakness of respiratory muscles	Dažnai (30–79%)
Rimmed vacuoles	Dažnai (30–79%)
Z-band streaming	Dažnai (30–79%)
EMG abnormality	Kartais (5–29%)
Fatigable weakness of bulbar muscles	Kartais (5–29%)
Loss of fat tissue in localized area	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Neck flexion weakness	Kartais (5–29%)
Thoracic kyphoscoliosis	Kartais (5–29%)
Reduced spine movement	Retai (1–4 %)
Bulbar palsy	Neužfiksuota
EMG: myopathic abnormalities	Neužfiksuota
Late-onset proximal muscle weakness	Neužfiksuota
Neck muscle weakness	Neužfiksuota
Weakness of outermost muscles	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Left ventricular systolic dysfunction	Labai dažnai (80–99%)
Stretched and thinned heart muscle	Labai dažnai (80–99%)
Abnormal heart rate	Dažnai (30–79%)
Cardiac failure	Dažnai (30–79%)
Concentric hypertrophic cardiomyopathy	Dažnai (30–79%)
Enlarged heart	Dažnai (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Dažnai (30–79%)
Reduced left ventricular ejection fraction	Dažnai (30–79%)
Reduced systolic function	Dažnai (30–79%)
Supraventricular arrhythmia	Dažnai (30–79%)
Complete heart block	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Restrictive cardiomyopathy	Kartais (5–29%)
Slow heartbeats	Kartais (5–29%)
Sudden cardiac death	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Distal lower limb muscle weakness	Labai dažnai (80–99%)
Shoulder girdle muscle wasting	Labai dažnai (80–99%)
Areflexia of lower limbs	Kartais (5–29%)
Foot drop	Kartais (5–29%)
Club feet	Neužfiksuota
Hyporeflexia of lower limbs	Neužfiksuota
Peroneal muscle atrophy	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Poor swallowing	Kartais (5–29%)
Constipation	Neužfiksuota
Diarrhea	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Weakness of facial musculature	Kartais (5–29%)
Bell's palsy	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal gait	Dažnai (30–79%)
Loss of ability to walk	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Exertional breathlessness	Dažnai (30–79%)
Orthopnea	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Thromboembolic stroke	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Enlarged male breast	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Fluid retention	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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