Požymiai

Su TTN susiję požymiai

titin

Žmogaus fenotipo ontologija sieja 136 požymių su TTN, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal heart rate	Visada
Enlarged and thickened heart muscle	Visada
Severely reduced left ventricular ejection fraction	Visada
Stretched and thinned heart muscle	Visada
Left ventricular systolic dysfunction	Labai dažnai (80–99%)
Sudden cardiac death	Labai dažnai (80–99%)
Cardiac failure	Dažnai (30–79%)
Fainting spell	Dažnai (30–79%)
Palpitations	Dažnai (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Dažnai (30–79%)
Abnormal heart valve morphology	Kartais (5–29%)
Atrioventricular reentrant tachycardia	Kartais (5–29%)
Heart attack	Kartais (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Kartais (5–29%)
Left ventricular hypertrophy	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)
Right ventricular failure	Kartais (5–29%)
Right ventricular hypertrophy	Kartais (5–29%)
Disease of the heart muscle	Neužfiksuota
Premature atrial contractions	Neužfiksuota
Reduced left ventricular ejection fraction	Neužfiksuota
Ventricular tachycardia	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Increased size of calf muscles	Visada
Tibialis muscle weakness	Visada
Foot drop	Dažnai (30–79%)
Peroneal muscle atrophy	Dažnai (30–79%)
Winged shoulder blade	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Hip contracture	Kartais (5–29%)
Long fingers	Kartais (5–29%)
Proximal lower limb muscle weakness	Kartais (5–29%)
Quadriceps weakness	Kartais (5–29%)
Shortening of the achilles tendon	Kartais (5–29%)
Distal upper limb muscle weakness	Retai (1–4 %)
Pelvic girdle muscle weakness	Neužfiksuota
Weak shoulder muscles	Neužfiksuota
Weakness of long finger extensor muscles	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Weakness of facial musculature	Visada
Bell's palsy	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Limited neck flexibility	Dažnai (30–79%)
Receding chin	Dažnai (30–79%)
Abnormal facial shape	Kartais (5–29%)
Bifid uvula	Kartais (5–29%)
Big lower jaw	Kartais (5–29%)
Facial diplegia	Kartais (5–29%)
Long face	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Small retruded chin	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Motor delay	Visada
Abnormal gait	Dažnai (30–79%)
Delayed motor skills	Dažnai (30–79%)
High pitched voice	Dažnai (30–79%)
High stepping	Dažnai (30–79%)
Waddling gait	Dažnai (30–79%)
Absent reflexes	Kartais (5–29%)
Clumsiness	Kartais (5–29%)
Delayed speech and language development	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Falls	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulty	Dažnai (30–79%)
Exertional breathlessness	Dažnai (30–79%)
Nocturnal hypoventilation	Dažnai (30–79%)
Orthopnea	Dažnai (30–79%)
Reduced vital capacity	Dažnai (30–79%)
Respiratory function loss	Dažnai (30–79%)
Stiff lung or chest wall causing decreased lung volume	Dažnai (30–79%)
Respiratory failure	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated blood creatine phosphokinase	Visada
Fluid retention	Dažnai (30–79%)
Increased muscle lipid content	Dažnai (30–79%)
Mildly elevated creatine kinase	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)
Prominent ear	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping upper eyelid	Visada
Eye muscle paralysis	Kartais (5–29%)
Weakness of muscles controlling eye movement	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)
Decreased ability to exercise	Dažnai (30–79%)
Fatigue	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Thromboembolic stroke	Kartais (5–29%)
Thromboembolism	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Mitochondrial depletion	Neužfiksuota

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Inability to produce voice sounds	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TTN susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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