Trăsături

Trăsături asociate cu DYSF

dysferlin

Human Phenotype Ontology asociază 75 trăsături cu DYSF, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the musculoskeletal system

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

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Distal lower limb muscle weakness	Des (30–79%)
Distal upper limb amyotrophy	Des (30–79%)
Lower limb muscle weakness	Des (30–79%)
Pelvic girdle muscle weakness	Des (30–79%)
Proximal lower limb muscle weakness	Des (30–79%)
Quadriceps weakness	Des (30–79%)
Tibialis muscle weakness	Des (30–79%)
Weak shoulder muscles	Des (30–79%)
Absent ankle reflexes	Uneori (5–29%)
Decreased/absent ankle reflexes	Uneori (5–29%)
Foot drop	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Increased size of calf muscles	Uneori (5–29%)
Intrinsic hand muscle atrophy	Uneori (5–29%)
Limb-girdle muscle weakness	Uneori (5–29%)
Proximal upper limb muscle weakness	Uneori (5–29%)
Triceps weakness	Uneori (5–29%)
Weakness of the intrinsic hand muscles	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)
Distal upper limb muscle weakness	Rar (1–4%)
Finger flexor weakness	Rar (1–4%)
Limited elbow movement	Rar (1–4%)
Limited knee flexion/extension	Rar (1–4%)
Decreased Achilles reflex	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Loss of ability to walk	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Diminished deep tendon reflex	Uneori (5–29%)
Toe walking	Uneori (5–29%)
Brachial plexus neuropathy	Rar (1–4%)
Chorea	Rar (1–4%)
Inability to walk	Rar (1–4%)
Hyperlordotic gait	Neînregistrat
Somatic sensory dysfunction	Neînregistrat
Twitching	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal EKG	Uneori (5–29%)
Complete right bundle branch block	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Reduced left ventricular ejection fraction	Uneori (5–29%)
Right ventricular hypertrophy	Uneori (5–29%)
Abnormality of the cardiovascular system	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Exercise-induced muscle pain	Des (30–79%)
Muscle ache	Uneori (5–29%)
Fatigue	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Întotdeauna
Abnormal levels of creatine kinase in blood	Foarte des (80–99%)
Muscular edema	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Constant urination	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu DYSF și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu