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

Abnormality of limbs

Trait	Hvor ofte den forekommer
Distal lower limb muscle weakness	Ofte (30–79 %)
Distal upper limb amyotrophy	Ofte (30–79 %)
Lower limb muscle weakness	Ofte (30–79 %)
Pelvic girdle muscle weakness	Ofte (30–79 %)
Proximal lower limb muscle weakness	Ofte (30–79 %)
Quadriceps weakness	Ofte (30–79 %)
Tibialis muscle weakness	Ofte (30–79 %)
Weak shoulder muscles	Ofte (30–79 %)
Absent ankle reflexes	Noen ganger (5–29 %)
Decreased/absent ankle reflexes	Noen ganger (5–29 %)
Foot drop	Noen ganger (5–29 %)
High-arched foot	Noen ganger (5–29 %)
Increased size of calf muscles	Noen ganger (5–29 %)
Intrinsic hand muscle atrophy	Noen ganger (5–29 %)
Limb-girdle muscle weakness	Noen ganger (5–29 %)
Proximal upper limb muscle weakness	Noen ganger (5–29 %)
Triceps weakness	Noen ganger (5–29 %)
Weakness of the intrinsic hand muscles	Noen ganger (5–29 %)
Winged shoulder blade	Noen ganger (5–29 %)
Distal upper limb muscle weakness	Sjelden (1–4%)
Finger flexor weakness	Sjelden (1–4%)
Limited elbow movement	Sjelden (1–4%)
Limited knee flexion/extension	Sjelden (1–4%)
Decreased Achilles reflex	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Loss of ability to walk	Svært ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Diminished deep tendon reflex	Noen ganger (5–29 %)
Toe walking	Noen ganger (5–29 %)
Brachial plexus neuropathy	Sjelden (1–4%)
Chorea	Sjelden (1–4%)
Inability to walk	Sjelden (1–4%)
Hyperlordotic gait	Ikke registrert
Somatic sensory dysfunction	Ikke registrert
Twitching	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal EKG	Noen ganger (5–29 %)
Complete right bundle branch block	Noen ganger (5–29 %)
Enlarged heart	Noen ganger (5–29 %)
Reduced left ventricular ejection fraction	Noen ganger (5–29 %)
Right ventricular hypertrophy	Noen ganger (5–29 %)
Abnormality of the cardiovascular system	Ikke registrert

Constitutional symptom

Trait	Hvor ofte den forekommer
Exercise-induced muscle pain	Ofte (30–79 %)
Muscle ache	Noen ganger (5–29 %)
Fatigue	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated blood creatine phosphokinase	Alltid
Abnormal levels of creatine kinase in blood	Svært ofte (80–99 %)
Muscular edema	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Poor swallowing	Sjelden (1–4%)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Constant urination	Sjelden (1–4%)

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

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