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	How often it is seen
Muscle degeneration	Always
Proximal neurogenic muscle weakness	Always
Absent muscle fiber dysferlin	Very often (80–99%)
Difficulty in standing	Often (30–79%)
Difficulty walking up stairs	Often (30–79%)
Distal lower limb amyotrophy	Often (30–79%)
Progressive proximal muscle weakness	Often (30–79%)
Tibialis anterior muscle atrophy	Often (30–79%)
Wasting of muscles near the body	Often (30–79%)
Deposits immunoreactive to beta-amyloid protein	Sometimes (5–29%)
Difficulty running	Sometimes (5–29%)
Neck flexion weakness	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Limited hip movement	Rarely (1–4%)
Reduced spine movement	Rarely (1–4%)
Decreased lung function due to weak breathing muscles	Not recorded
Distal muscle wasting	Not recorded
EMG: myopathic abnormalities	Not recorded
Increased connective tissue	Not recorded
Increased variability in muscle fiber diameter	Not recorded
Muscle fiber splitting	Not recorded
Muscle stiffness	Not recorded
Muscle tissue disease	Not recorded
Muscular dystrophy	Not recorded
Neck muscle weakness	Not recorded
Rimmed vacuoles	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Often (30–79%)
Distal upper limb amyotrophy	Often (30–79%)
Lower limb muscle weakness	Often (30–79%)
Pelvic girdle muscle weakness	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Quadriceps weakness	Often (30–79%)
Tibialis muscle weakness	Often (30–79%)
Weak shoulder muscles	Often (30–79%)
Absent ankle reflexes	Sometimes (5–29%)
Decreased/absent ankle reflexes	Sometimes (5–29%)
Foot drop	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Increased size of calf muscles	Sometimes (5–29%)
Intrinsic hand muscle atrophy	Sometimes (5–29%)
Limb-girdle muscle weakness	Sometimes (5–29%)
Proximal upper limb muscle weakness	Sometimes (5–29%)
Triceps weakness	Sometimes (5–29%)
Weakness of the intrinsic hand muscles	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)
Distal upper limb muscle weakness	Rarely (1–4%)
Finger flexor weakness	Rarely (1–4%)
Limited elbow movement	Rarely (1–4%)
Limited knee flexion/extension	Rarely (1–4%)
Decreased Achilles reflex	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Loss of ability to walk	Very often (80–99%)
Abnormal gait	Often (30–79%)
Diminished deep tendon reflex	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Brachial plexus neuropathy	Rarely (1–4%)
Chorea	Rarely (1–4%)
Inability to walk	Rarely (1–4%)
Hyperlordotic gait	Not recorded
Somatic sensory dysfunction	Not recorded
Twitching	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal EKG	Sometimes (5–29%)
Complete right bundle branch block	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Reduced left ventricular ejection fraction	Sometimes (5–29%)
Right ventricular hypertrophy	Sometimes (5–29%)
Abnormality of the cardiovascular system	Not recorded

Constitutional symptom

Trait	How often it is seen
Exercise-induced muscle pain	Often (30–79%)
Muscle ache	Sometimes (5–29%)
Fatigue	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Abnormal levels of creatine kinase in blood	Very often (80–99%)
Muscular edema	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Constant urination	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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