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

Abnormality of limbs

Trait	Frequenza di osservazione
Distal lower limb muscle weakness	Spesso (30–79%)
Distal upper limb amyotrophy	Spesso (30–79%)
Lower limb muscle weakness	Spesso (30–79%)
Pelvic girdle muscle weakness	Spesso (30–79%)
Proximal lower limb muscle weakness	Spesso (30–79%)
Quadriceps weakness	Spesso (30–79%)
Tibialis muscle weakness	Spesso (30–79%)
Weak shoulder muscles	Spesso (30–79%)
Absent ankle reflexes	A volte (5–29%)
Decreased/absent ankle reflexes	A volte (5–29%)
Foot drop	A volte (5–29%)
High-arched foot	A volte (5–29%)
Increased size of calf muscles	A volte (5–29%)
Intrinsic hand muscle atrophy	A volte (5–29%)
Limb-girdle muscle weakness	A volte (5–29%)
Proximal upper limb muscle weakness	A volte (5–29%)
Triceps weakness	A volte (5–29%)
Weakness of the intrinsic hand muscles	A volte (5–29%)
Winged shoulder blade	A volte (5–29%)
Distal upper limb muscle weakness	Raramente (1–4%)
Finger flexor weakness	Raramente (1–4%)
Limited elbow movement	Raramente (1–4%)
Limited knee flexion/extension	Raramente (1–4%)
Decreased Achilles reflex	Non registrato

Abnormality of the nervous system

Trait	Frequenza di osservazione
Loss of ability to walk	Molto spesso (80–99%)
Abnormal gait	Spesso (30–79%)
Diminished deep tendon reflex	A volte (5–29%)
Toe walking	A volte (5–29%)
Brachial plexus neuropathy	Raramente (1–4%)
Chorea	Raramente (1–4%)
Inability to walk	Raramente (1–4%)
Hyperlordotic gait	Non registrato
Somatic sensory dysfunction	Non registrato
Twitching	Non registrato

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
Abnormal EKG	A volte (5–29%)
Complete right bundle branch block	A volte (5–29%)
Enlarged heart	A volte (5–29%)
Reduced left ventricular ejection fraction	A volte (5–29%)
Right ventricular hypertrophy	A volte (5–29%)
Abnormality of the cardiovascular system	Non registrato

Constitutional symptom

Trait	Frequenza di osservazione
Exercise-induced muscle pain	Spesso (30–79%)
Muscle ache	A volte (5–29%)
Fatigue	Non registrato

Laboratory abnormality

Trait	Frequenza di osservazione
Elevated blood creatine phosphokinase	Sempre
Abnormal levels of creatine kinase in blood	Molto spesso (80–99%)
Muscular edema	A volte (5–29%)

Abnormality of the digestive system

Trait	Frequenza di osservazione
Poor swallowing	Raramente (1–4%)

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Constant urination	Raramente (1–4%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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