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

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Distal lower limb muscle weakness	Sageli (30–79%)
Distal upper limb amyotrophy	Sageli (30–79%)
Lower limb muscle weakness	Sageli (30–79%)
Pelvic girdle muscle weakness	Sageli (30–79%)
Proximal lower limb muscle weakness	Sageli (30–79%)
Quadriceps weakness	Sageli (30–79%)
Tibialis muscle weakness	Sageli (30–79%)
Weak shoulder muscles	Sageli (30–79%)
Absent ankle reflexes	Mõnikord (5–29%)
Decreased/absent ankle reflexes	Mõnikord (5–29%)
Foot drop	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Increased size of calf muscles	Mõnikord (5–29%)
Intrinsic hand muscle atrophy	Mõnikord (5–29%)
Limb-girdle muscle weakness	Mõnikord (5–29%)
Proximal upper limb muscle weakness	Mõnikord (5–29%)
Triceps weakness	Mõnikord (5–29%)
Weakness of the intrinsic hand muscles	Mõnikord (5–29%)
Winged shoulder blade	Mõnikord (5–29%)
Distal upper limb muscle weakness	Harva (1–4%)
Finger flexor weakness	Harva (1–4%)
Limited elbow movement	Harva (1–4%)
Limited knee flexion/extension	Harva (1–4%)
Decreased Achilles reflex	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Loss of ability to walk	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Diminished deep tendon reflex	Mõnikord (5–29%)
Toe walking	Mõnikord (5–29%)
Brachial plexus neuropathy	Harva (1–4%)
Chorea	Harva (1–4%)
Inability to walk	Harva (1–4%)
Hyperlordotic gait	Pole registreeritud
Somatic sensory dysfunction	Pole registreeritud
Twitching	Pole registreeritud

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormal EKG	Mõnikord (5–29%)
Complete right bundle branch block	Mõnikord (5–29%)
Enlarged heart	Mõnikord (5–29%)
Reduced left ventricular ejection fraction	Mõnikord (5–29%)
Right ventricular hypertrophy	Mõnikord (5–29%)
Abnormality of the cardiovascular system	Pole registreeritud

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Exercise-induced muscle pain	Sageli (30–79%)
Muscle ache	Mõnikord (5–29%)
Fatigue	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati
Abnormal levels of creatine kinase in blood	Väga sageli (80–99%)
Muscular edema	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Poor swallowing	Harva (1–4%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Constant urination	Harva (1–4%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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