Traits

Traits linked to DYSF

dysferlin

The Human Phenotype Ontology links 75 traits to DYSF, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Muscle degeneration	Visada
Proximal neurogenic muscle weakness	Visada
Absent muscle fiber dysferlin	Labai dažnai (80–99%)
Difficulty in standing	Dažnai (30–79%)
Difficulty walking up stairs	Dažnai (30–79%)
Distal lower limb amyotrophy	Dažnai (30–79%)
Progressive proximal muscle weakness	Dažnai (30–79%)
Tibialis anterior muscle atrophy	Dažnai (30–79%)
Wasting of muscles near the body	Dažnai (30–79%)
Deposits immunoreactive to beta-amyloid protein	Kartais (5–29%)
Difficulty running	Kartais (5–29%)
Neck flexion weakness	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Limited hip movement	Retai (1–4 %)
Reduced spine movement	Retai (1–4 %)
Decreased lung function due to weak breathing muscles	Neužfiksuota
Distal muscle wasting	Neužfiksuota
EMG: myopathic abnormalities	Neužfiksuota
Increased connective tissue	Neužfiksuota
Increased variability in muscle fiber diameter	Neužfiksuota
Muscle fiber splitting	Neužfiksuota
Muscle stiffness	Neužfiksuota
Muscle tissue disease	Neužfiksuota
Muscular dystrophy	Neužfiksuota
Neck muscle weakness	Neužfiksuota
Rimmed vacuoles	Neužfiksuota
Weakness of outermost muscles	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Distal lower limb muscle weakness	Dažnai (30–79%)
Distal upper limb amyotrophy	Dažnai (30–79%)
Lower limb muscle weakness	Dažnai (30–79%)
Pelvic girdle muscle weakness	Dažnai (30–79%)
Proximal lower limb muscle weakness	Dažnai (30–79%)
Quadriceps weakness	Dažnai (30–79%)
Tibialis muscle weakness	Dažnai (30–79%)
Weak shoulder muscles	Dažnai (30–79%)
Absent ankle reflexes	Kartais (5–29%)
Decreased/absent ankle reflexes	Kartais (5–29%)
Foot drop	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Increased size of calf muscles	Kartais (5–29%)
Intrinsic hand muscle atrophy	Kartais (5–29%)
Limb-girdle muscle weakness	Kartais (5–29%)
Proximal upper limb muscle weakness	Kartais (5–29%)
Triceps weakness	Kartais (5–29%)
Weakness of the intrinsic hand muscles	Kartais (5–29%)
Winged shoulder blade	Kartais (5–29%)
Distal upper limb muscle weakness	Retai (1–4 %)
Finger flexor weakness	Retai (1–4 %)
Limited elbow movement	Retai (1–4 %)
Limited knee flexion/extension	Retai (1–4 %)
Decreased Achilles reflex	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Loss of ability to walk	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Diminished deep tendon reflex	Kartais (5–29%)
Toe walking	Kartais (5–29%)
Brachial plexus neuropathy	Retai (1–4 %)
Chorea	Retai (1–4 %)
Inability to walk	Retai (1–4 %)
Hyperlordotic gait	Neužfiksuota
Somatic sensory dysfunction	Neužfiksuota
Twitching	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal EKG	Kartais (5–29%)
Complete right bundle branch block	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Reduced left ventricular ejection fraction	Kartais (5–29%)
Right ventricular hypertrophy	Kartais (5–29%)
Abnormality of the cardiovascular system	Neužfiksuota

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Exercise-induced muscle pain	Dažnai (30–79%)
Muscle ache	Kartais (5–29%)
Fatigue	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated blood creatine phosphokinase	Visada
Abnormal levels of creatine kinase in blood	Labai dažnai (80–99%)
Muscular edema	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Poor swallowing	Retai (1–4 %)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Constant urination	Retai (1–4 %)

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 DYSF and how often each is seen. Find out more at hpo.jax.org.

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