Trăsături

Trăsături asociate cu TTN

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Human Phenotype Ontology asociază 136 trăsături cu TTN, 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
Centrally nucleated skeletal muscle fibers	Întotdeauna
Difficulty running	Întotdeauna
Difficulty walking up stairs	Întotdeauna
Fatty replacement of skeletal muscle	Întotdeauna
Generalized muscle weakness	Întotdeauna
Increased variability in muscle fiber diameter	Întotdeauna
Joint contracture	Întotdeauna
Muscle tissue disease	Întotdeauna
Proximal neurogenic muscle weakness	Întotdeauna
Tibialis anterior muscle atrophy	Întotdeauna
Muscular dystrophy	Foarte des (80–99%)
Ankle weakness	Des (30–79%)
Axial muscle weakness	Des (30–79%)
Decreased lung function due to weak breathing muscles	Des (30–79%)
Diffuse skeletal muscle wasting	Des (30–79%)
EMG: myopathic abnormalities	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Gowers sign	Des (30–79%)
Increased endomysial connective tissue	Des (30–79%)
Intermittent episodes of respiratory insufficiency due to muscle weakness	Des (30–79%)
Internally nucleated skeletal muscle fibers	Des (30–79%)
Limited hip movement	Des (30–79%)
Minicore myopathy	Des (30–79%)
Multiple joint contractures	Des (30–79%)
Muscle degeneration	Des (30–79%)
Muscle fiber degeneration	Des (30–79%)
Muscle fiber splitting	Des (30–79%)
Neck flexion weakness	Des (30–79%)
Necrotizing myopathy	Des (30–79%)
Poor head control	Des (30–79%)
Progressive muscle weakness	Des (30–79%)
Reduced spine movement	Des (30–79%)
Rimmed vacuoles	Des (30–79%)
Scoliosis	Des (30–79%)
Type 1 muscle fiber predominance	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
EMG abnormality	Uneori (5–29%)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Uneori (5–29%)
Hypertrophied muscle fibers	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Weakness of outermost muscles	Uneori (5–29%)
Absent muscle fiber merosin	Neînregistrat
Frequent falls	Neînregistrat
Myofibrillar myopathy	Neînregistrat
Weak diaphragm	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal heart rate	Întotdeauna
Enlarged and thickened heart muscle	Întotdeauna
Severely reduced left ventricular ejection fraction	Întotdeauna
Stretched and thinned heart muscle	Întotdeauna
Left ventricular systolic dysfunction	Foarte des (80–99%)
Sudden cardiac death	Foarte des (80–99%)
Cardiac failure	Des (30–79%)
Fainting spell	Des (30–79%)
Palpitations	Des (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Des (30–79%)
Abnormal heart valve morphology	Uneori (5–29%)
Atrioventricular reentrant tachycardia	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Uneori (5–29%)
Left ventricular hypertrophy	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Right ventricular failure	Uneori (5–29%)
Right ventricular hypertrophy	Uneori (5–29%)
Disease of the heart muscle	Neînregistrat
Premature atrial contractions	Neînregistrat
Reduced left ventricular ejection fraction	Neînregistrat
Ventricular tachycardia	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased size of calf muscles	Întotdeauna
Tibialis muscle weakness	Întotdeauna
Foot drop	Des (30–79%)
Peroneal muscle atrophy	Des (30–79%)
Winged shoulder blade	Des (30–79%)
Club feet	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Hip contracture	Uneori (5–29%)
Long fingers	Uneori (5–29%)
Proximal lower limb muscle weakness	Uneori (5–29%)
Quadriceps weakness	Uneori (5–29%)
Shortening of the achilles tendon	Uneori (5–29%)
Distal upper limb muscle weakness	Rar (1–4%)
Pelvic girdle muscle weakness	Neînregistrat
Weak shoulder muscles	Neînregistrat
Weakness of long finger extensor muscles	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Weakness of facial musculature	Întotdeauna
Bell's palsy	Des (30–79%)
High palate	Des (30–79%)
Limited neck flexibility	Des (30–79%)
Receding chin	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Big lower jaw	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
Long face	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Small retruded chin	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Motor delay	Întotdeauna
Abnormal gait	Des (30–79%)
Delayed motor skills	Des (30–79%)
High pitched voice	Des (30–79%)
High stepping	Des (30–79%)
Waddling gait	Des (30–79%)
Absent reflexes	Uneori (5–29%)
Clumsiness	Uneori (5–29%)
Delayed speech and language development	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Falls	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulty	Des (30–79%)
Exertional breathlessness	Des (30–79%)
Nocturnal hypoventilation	Des (30–79%)
Orthopnea	Des (30–79%)
Reduced vital capacity	Des (30–79%)
Respiratory function loss	Des (30–79%)
Stiff lung or chest wall causing decreased lung volume	Des (30–79%)
Respiratory failure	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Întotdeauna
Fluid retention	Des (30–79%)
Increased muscle lipid content	Des (30–79%)
Mildly elevated creatine kinase	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Des (30–79%)
Prominent ear	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Întotdeauna
Eye muscle paralysis	Uneori (5–29%)
Weakness of muscles controlling eye movement	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Decreased ability to exercise	Des (30–79%)
Fatigue	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Thromboembolic stroke	Uneori (5–29%)
Thromboembolism	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Mitochondrial depletion	Neînregistrat

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Inability to produce voice sounds	Uneori (5–29%)

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 TTN și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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