Trăsături

Trăsături asociate cu ACTA1

actin alpha 1, skeletal muscle

Human Phenotype Ontology asociază 181 trăsături cu ACTA1, 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
Abnormality of skeletal muscle fiber size	Întotdeauna
Generalized decreased muscle tone	Întotdeauna
Generalized muscle weakness	Întotdeauna
Increased connective tissue	Întotdeauna
Increased endomysial connective tissue	Întotdeauna
Increased variability in muscle fiber diameter	Întotdeauna
Joint contracture	Întotdeauna
Low muscle tone	Întotdeauna
Muscle degeneration	Întotdeauna
Neck flexion weakness	Întotdeauna
Poor head control	Întotdeauna
Type 1 muscle fiber predominance	Întotdeauna
Abnormally shaped skeletal	Foarte des (80–99%)
Autophagic vacuoles	Foarte des (80–99%)
Axial muscle weakness	Foarte des (80–99%)
Difficulty walking up stairs	Foarte des (80–99%)
EMG: myopathic abnormalities	Foarte des (80–99%)
Gowers sign	Foarte des (80–99%)
Handgrip myotonia	Foarte des (80–99%)
Low muscle tone, in neonatal onset	Foarte des (80–99%)
Muscle fiber splitting	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Myofibrillar myopathy	Foarte des (80–99%)
Neck muscle weakness	Foarte des (80–99%)
Progressive muscle weakness	Foarte des (80–99%)
Proximal neurogenic muscle weakness	Foarte des (80–99%)
Reduced spine movement	Foarte des (80–99%)
Rimmed vacuoles	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Severely decreased muscle tone	Foarte des (80–99%)
Type 1 muscle fiber atrophy	Foarte des (80–99%)
Weakness of outermost muscles	Foarte des (80–99%)
Abnormality of the chest	Des (30–79%)
Decreased lung function due to weak breathing muscles	Des (30–79%)
Fatigable weakness of bulbar muscles	Des (30–79%)
Fatigable weakness of distal limb muscles	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Generalized muscle wasting	Des (30–79%)
Hamstring contractures	Des (30–79%)
Multiple fractures present at birth	Des (30–79%)
Muscle fiber necrosis	Des (30–79%)
Muscle stiffness	Des (30–79%)
Prominent swayback	Des (30–79%)
Thoracic scoliosis	Des (30–79%)
Tired easily	Des (30–79%)
Weakness of muscles of respiration	Des (30–79%)
Abnormality of the diaphragm	Uneori (5–29%)
Arthrogryposis multiplex congenita	Uneori (5–29%)
Fatigable weakness of respiratory muscles	Uneori (5–29%)
Fatiguable weakness of proximal limb muscles	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Muscle weakness between ribs	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Poorly developed skeletal musculature	Uneori (5–29%)
Rigidity	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Thin ribs	Uneori (5–29%)
Hunched back	Rar (1–4%)
Bulbar palsy	Neînregistrat
Centrally nucleated skeletal muscle fibers	Neînregistrat
EMG: neuropathic changes	Neînregistrat
Frequent falls	Neînregistrat
Late-onset distal muscle weakness	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Joint contracture of the hand	Întotdeauna
Limb-girdle muscular dystrophy	Foarte des (80–99%)
Winged shoulder blade	Foarte des (80–99%)
Wrist drop	Foarte des (80–99%)
Elbow flexion contracture	Des (30–79%)
Foot drop	Des (30–79%)
Hip contracture	Des (30–79%)
Knee contracture	Des (30–79%)
Limb muscle weakness	Des (30–79%)
Limb-girdle muscle weakness	Des (30–79%)
Ankle flexion contracture	Uneori (5–29%)
Club feet	Uneori (5–29%)
Dislocated hip since birth	Uneori (5–29%)
Flexion contracture of finger	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Inability to straighten knee	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Outward bow-leggedness	Uneori (5–29%)
Pelvic girdle muscle weakness	Uneori (5–29%)
Weak shoulder muscles	Uneori (5–29%)
Hand muscle degeneration	Neînregistrat
Shortening of the achilles tendon	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent reflexes	Întotdeauna
Delayed ability to sit	Întotdeauna
Global developmental delay	Foarte des (80–99%)
Waddling gait	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Clumsiness	Des (30–79%)
Decreased muscle movement	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed ability to roll over	Des (30–79%)
Diminished deep tendon reflex	Des (30–79%)
Motor delay	Des (30–79%)
Slow movements	Des (30–79%)
Bulbar signs	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Falls	Uneori (5–29%)
Headache	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Tremor	Uneori (5–29%)
Poor fine motor coordination	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Expressionless face	Întotdeauna
Weakness of facial musculature	Întotdeauna
Bell's palsy	Foarte des (80–99%)
Wry neck	Foarte des (80–99%)
Big lower jaw	Des (30–79%)
Dental crowding	Des (30–79%)
High palate	Des (30–79%)
Long face	Des (30–79%)
Myopathic facies	Des (30–79%)
Narrow face	Des (30–79%)
Chewing difficulties	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Short neck	Uneori (5–29%)
Wide fontanelles	Uneori (5–29%)
Receding chin	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory failure	Întotdeauna
Respiratory failure requiring assisted ventilation	Întotdeauna
Respiratory function loss	Întotdeauna
Abnormality of the respiratory system	Des (30–79%)
Abnormality on pulmonary function testing	Des (30–79%)
Breathing difficulties	Des (30–79%)
High blood carbon dioxide level	Uneori (5–29%)
Low blood oxygen level	Uneori (5–29%)
Nocturnal hypoventilation	Uneori (5–29%)
Poorly developed lungs	Uneori (5–29%)
Reduced vital capacity	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Tube feeding	Întotdeauna
Poor swallowing	Foarte des (80–99%)
Gastrostomy tube feeding in infancy	Des (30–79%)
Nasogastric tube feeding	Des (30–79%)
Neuromuscular dysphagia	Des (30–79%)
Poor appetite	Des (30–79%)
Feeding difficulties in infancy	Uneori (5–29%)
Nasogastric tube feeding in infancy	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cardiac conduction abnormality	Des (30–79%)
Abnormality of the heart	Uneori (5–29%)
Cor pulmonale	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Heart stops beating	Uneori (5–29%)
Slow heartbeats	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Feet or buttocks of fetus positioned near opening of uterus	Întotdeauna
Less than 10 fetal movements in 12 hours	Foarte des (80–99%)
High levels of amniotic fluid	Des (30–79%)
Fetal akinesia sequence	Uneori (5–29%)
Premature birth	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Chylothorax	Întotdeauna
Elevated blood creatine phosphokinase	Foarte des (80–99%)
Increased muscle lipid content	Des (30–79%)
Edema of the dorsum of hands	Uneori (5–29%)
Mildly elevated creatine kinase	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Pneumonia	Des (30–79%)
Aspiration pneumonia	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Weight loss	Des (30–79%)
Slender build	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Întotdeauna
Subdural hemorrhage	Întotdeauna

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Uneori (5–29%)
Short penis	Uneori (5–29%)

Constitutional symptom

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

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Nemaline bodies	Întotdeauna

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	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 ACTA1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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