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

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

Trait	나타나는 빈도
Loss of ability to walk	매우 자주 (80–99%)
Abnormal gait	자주 (30–79%)
Diminished deep tendon reflex	가끔 (5–29%)
Toe walking	가끔 (5–29%)
Brachial plexus neuropathy	드물게 (1–4%)
Chorea	드물게 (1–4%)
Inability to walk	드물게 (1–4%)
Hyperlordotic gait	기록되지 않음
Somatic sensory dysfunction	기록되지 않음
Twitching	기록되지 않음

Trait	나타나는 빈도
Abnormal EKG	가끔 (5–29%)
Complete right bundle branch block	가끔 (5–29%)
Enlarged heart	가끔 (5–29%)
Reduced left ventricular ejection fraction	가끔 (5–29%)
Right ventricular hypertrophy	가끔 (5–29%)
Abnormality of the cardiovascular system	기록되지 않음

Trait	나타나는 빈도
Exercise-induced muscle pain	자주 (30–79%)
Muscle ache	가끔 (5–29%)
Fatigue	기록되지 않음

Trait	나타나는 빈도
Elevated blood creatine phosphokinase	항상
Abnormal levels of creatine kinase in blood	매우 자주 (80–99%)
Muscular edema	가끔 (5–29%)

Trait	나타나는 빈도
Poor swallowing	드물게 (1–4%)

Trait	나타나는 빈도
Constant urination	드물게 (1–4%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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