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

Abnormality of limbs

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

Abnormality of the nervous system

Trait	Ne sıklıkla görüldüğü
Loss of ability to walk	Çok sık (%80–99)
Abnormal gait	Sık (%30–79)
Diminished deep tendon reflex	Bazen (%5–29)
Toe walking	Bazen (%5–29)
Brachial plexus neuropathy	Seyrek (%1–4)
Chorea	Seyrek (%1–4)
Inability to walk	Seyrek (%1–4)
Hyperlordotic gait	Kaydedilmedi
Somatic sensory dysfunction	Kaydedilmedi
Twitching	Kaydedilmedi

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Abnormal EKG	Bazen (%5–29)
Complete right bundle branch block	Bazen (%5–29)
Enlarged heart	Bazen (%5–29)
Reduced left ventricular ejection fraction	Bazen (%5–29)
Right ventricular hypertrophy	Bazen (%5–29)
Abnormality of the cardiovascular system	Kaydedilmedi

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Exercise-induced muscle pain	Sık (%30–79)
Muscle ache	Bazen (%5–29)
Fatigue	Kaydedilmedi

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Elevated blood creatine phosphokinase	Her zaman
Abnormal levels of creatine kinase in blood	Çok sık (%80–99)
Muscular edema	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Poor swallowing	Seyrek (%1–4)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Constant urination	Seyrek (%1–4)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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