Požymiai

Su ACTA1 susiję požymiai

actin alpha 1, skeletal muscle

Žmogaus fenotipo ontologija sieja 181 požymį su ACTA1: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormality of skeletal muscle fiber size	Visada
Generalized decreased muscle tone	Visada
Generalized muscle weakness	Visada
Increased connective tissue	Visada
Increased endomysial connective tissue	Visada
Increased variability in muscle fiber diameter	Visada
Joint contracture	Visada
Low muscle tone	Visada
Muscle degeneration	Visada
Neck flexion weakness	Visada
Poor head control	Visada
Type 1 muscle fiber predominance	Visada
Abnormally shaped skeletal	Labai dažnai (80–99%)
Autophagic vacuoles	Labai dažnai (80–99%)
Axial muscle weakness	Labai dažnai (80–99%)
Difficulty walking up stairs	Labai dažnai (80–99%)
EMG: myopathic abnormalities	Labai dažnai (80–99%)
Gowers sign	Labai dažnai (80–99%)
Handgrip myotonia	Labai dažnai (80–99%)
Low muscle tone, in neonatal onset	Labai dažnai (80–99%)
Muscle fiber splitting	Labai dažnai (80–99%)
Muscle tissue disease	Labai dažnai (80–99%)
Myofibrillar myopathy	Labai dažnai (80–99%)
Neck muscle weakness	Labai dažnai (80–99%)
Progressive muscle weakness	Labai dažnai (80–99%)
Proximal neurogenic muscle weakness	Labai dažnai (80–99%)
Reduced spine movement	Labai dažnai (80–99%)
Rimmed vacuoles	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Severely decreased muscle tone	Labai dažnai (80–99%)
Type 1 muscle fiber atrophy	Labai dažnai (80–99%)
Weakness of outermost muscles	Labai dažnai (80–99%)
Abnormality of the chest	Dažnai (30–79%)
Decreased lung function due to weak breathing muscles	Dažnai (30–79%)
Fatigable weakness of bulbar muscles	Dažnai (30–79%)
Fatigable weakness of distal limb muscles	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Generalized muscle wasting	Dažnai (30–79%)
Hamstring contractures	Dažnai (30–79%)
Multiple fractures present at birth	Dažnai (30–79%)
Muscle fiber necrosis	Dažnai (30–79%)
Muscle stiffness	Dažnai (30–79%)
Prominent swayback	Dažnai (30–79%)
Thoracic scoliosis	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Weakness of muscles of respiration	Dažnai (30–79%)
Abnormality of the diaphragm	Kartais (5–29%)
Arthrogryposis multiplex congenita	Kartais (5–29%)
Fatigable weakness of respiratory muscles	Kartais (5–29%)
Fatiguable weakness of proximal limb muscles	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Kyphoscoliosis	Kartais (5–29%)
Muscle weakness between ribs	Kartais (5–29%)
Narrow chest	Kartais (5–29%)
Poorly developed skeletal musculature	Kartais (5–29%)
Rigidity	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
Thin ribs	Kartais (5–29%)
Hunched back	Retai (1–4 %)
Bulbar palsy	Neužfiksuota
Centrally nucleated skeletal muscle fibers	Neužfiksuota
EMG: neuropathic changes	Neužfiksuota
Frequent falls	Neužfiksuota
Late-onset distal muscle weakness	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Joint contracture of the hand	Visada
Limb-girdle muscular dystrophy	Labai dažnai (80–99%)
Winged shoulder blade	Labai dažnai (80–99%)
Wrist drop	Labai dažnai (80–99%)
Elbow flexion contracture	Dažnai (30–79%)
Foot drop	Dažnai (30–79%)
Hip contracture	Dažnai (30–79%)
Knee contracture	Dažnai (30–79%)
Limb muscle weakness	Dažnai (30–79%)
Limb-girdle muscle weakness	Dažnai (30–79%)
Ankle flexion contracture	Kartais (5–29%)
Club feet	Kartais (5–29%)
Dislocated hip since birth	Kartais (5–29%)
Flexion contracture of finger	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Inability to straighten knee	Kartais (5–29%)
Inward turned thumb	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Outward bow-leggedness	Kartais (5–29%)
Pelvic girdle muscle weakness	Kartais (5–29%)
Weak shoulder muscles	Kartais (5–29%)
Hand muscle degeneration	Neužfiksuota
Shortening of the achilles tendon	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Absent reflexes	Visada
Delayed ability to sit	Visada
Global developmental delay	Labai dažnai (80–99%)
Waddling gait	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Clumsiness	Dažnai (30–79%)
Decreased muscle movement	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Delayed ability to roll over	Dažnai (30–79%)
Diminished deep tendon reflex	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Bulbar signs	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Falls	Kartais (5–29%)
Headache	Kartais (5–29%)
Increased reflexes	Kartais (5–29%)
Tremor	Kartais (5–29%)
Poor fine motor coordination	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Expressionless face	Visada
Weakness of facial musculature	Visada
Bell's palsy	Labai dažnai (80–99%)
Wry neck	Labai dažnai (80–99%)
Big lower jaw	Dažnai (30–79%)
Dental crowding	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Myopathic facies	Dažnai (30–79%)
Narrow face	Dažnai (30–79%)
Chewing difficulties	Kartais (5–29%)
Facial diplegia	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Short neck	Kartais (5–29%)
Wide fontanelles	Kartais (5–29%)
Receding chin	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Respiratory failure	Visada
Respiratory failure requiring assisted ventilation	Visada
Respiratory function loss	Visada
Abnormality of the respiratory system	Dažnai (30–79%)
Abnormality on pulmonary function testing	Dažnai (30–79%)
Breathing difficulties	Dažnai (30–79%)
High blood carbon dioxide level	Kartais (5–29%)
Low blood oxygen level	Kartais (5–29%)
Nocturnal hypoventilation	Kartais (5–29%)
Poorly developed lungs	Kartais (5–29%)
Reduced vital capacity	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Tube feeding	Visada
Poor swallowing	Labai dažnai (80–99%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)
Nasogastric tube feeding	Dažnai (30–79%)
Neuromuscular dysphagia	Dažnai (30–79%)
Poor appetite	Dažnai (30–79%)
Feeding difficulties in infancy	Kartais (5–29%)
Nasogastric tube feeding in infancy	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Cardiac conduction abnormality	Dažnai (30–79%)
Abnormality of the heart	Kartais (5–29%)
Cor pulmonale	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Heart stops beating	Kartais (5–29%)
Slow heartbeats	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Feet or buttocks of fetus positioned near opening of uterus	Visada
Less than 10 fetal movements in 12 hours	Labai dažnai (80–99%)
High levels of amniotic fluid	Dažnai (30–79%)
Fetal akinesia sequence	Kartais (5–29%)
Premature birth	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Chylothorax	Visada
Elevated blood creatine phosphokinase	Labai dažnai (80–99%)
Increased muscle lipid content	Dažnai (30–79%)
Edema of the dorsum of hands	Kartais (5–29%)
Mildly elevated creatine kinase	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping upper eyelid	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Pneumonia	Dažnai (30–79%)
Aspiration pneumonia	Kartais (5–29%)
Recurrent respiratory infections	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Slender build	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Visada
Subdural hemorrhage	Visada

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hypospadias	Kartais (5–29%)
Short penis	Kartais (5–29%)

Constitutional symptom

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

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Nemaline bodies	Visada

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Hoarse voice	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 ACTA1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test