Kjennetegn

Kjennetegn knyttet til ACTA1

actin alpha 1, skeletal muscle

Human Phenotype Ontology knytter 181 kjennetegn til ACTA1, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the musculoskeletal system

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

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Joint contracture of the hand	Alltid
Limb-girdle muscular dystrophy	Svært ofte (80–99 %)
Winged shoulder blade	Svært ofte (80–99 %)
Wrist drop	Svært ofte (80–99 %)
Elbow flexion contracture	Ofte (30–79 %)
Foot drop	Ofte (30–79 %)
Hip contracture	Ofte (30–79 %)
Knee contracture	Ofte (30–79 %)
Limb muscle weakness	Ofte (30–79 %)
Limb-girdle muscle weakness	Ofte (30–79 %)
Ankle flexion contracture	Noen ganger (5–29 %)
Club feet	Noen ganger (5–29 %)
Dislocated hip since birth	Noen ganger (5–29 %)
Flexion contracture of finger	Noen ganger (5–29 %)
High-arched foot	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Inability to straighten knee	Noen ganger (5–29 %)
Inward turned thumb	Noen ganger (5–29 %)
Knock knees	Noen ganger (5–29 %)
Outward bow-leggedness	Noen ganger (5–29 %)
Pelvic girdle muscle weakness	Noen ganger (5–29 %)
Weak shoulder muscles	Noen ganger (5–29 %)
Hand muscle degeneration	Ikke registrert
Shortening of the achilles tendon	Ikke registrert

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Absent reflexes	Alltid
Delayed ability to sit	Alltid
Global developmental delay	Svært ofte (80–99 %)
Waddling gait	Svært ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Clumsiness	Ofte (30–79 %)
Decreased muscle movement	Ofte (30–79 %)
Decreased reflex response	Ofte (30–79 %)
Delayed ability to roll over	Ofte (30–79 %)
Diminished deep tendon reflex	Ofte (30–79 %)
Motor delay	Ofte (30–79 %)
Slow movements	Ofte (30–79 %)
Bulbar signs	Noen ganger (5–29 %)
Difficulty sleeping	Noen ganger (5–29 %)
Falls	Noen ganger (5–29 %)
Headache	Noen ganger (5–29 %)
Increased reflexes	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)
Poor fine motor coordination	Ikke registrert

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Expressionless face	Alltid
Weakness of facial musculature	Alltid
Bell's palsy	Svært ofte (80–99 %)
Wry neck	Svært ofte (80–99 %)
Big lower jaw	Ofte (30–79 %)
Dental crowding	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Myopathic facies	Ofte (30–79 %)
Narrow face	Ofte (30–79 %)
Chewing difficulties	Noen ganger (5–29 %)
Facial diplegia	Noen ganger (5–29 %)
High, narrow palate	Noen ganger (5–29 %)
Little lower jaw	Noen ganger (5–29 %)
Long philtrum	Noen ganger (5–29 %)
Short neck	Noen ganger (5–29 %)
Wide fontanelles	Noen ganger (5–29 %)
Receding chin	Ikke registrert

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Respiratory failure	Alltid
Respiratory failure requiring assisted ventilation	Alltid
Respiratory function loss	Alltid
Abnormality of the respiratory system	Ofte (30–79 %)
Abnormality on pulmonary function testing	Ofte (30–79 %)
Breathing difficulties	Ofte (30–79 %)
High blood carbon dioxide level	Noen ganger (5–29 %)
Low blood oxygen level	Noen ganger (5–29 %)
Nocturnal hypoventilation	Noen ganger (5–29 %)
Poorly developed lungs	Noen ganger (5–29 %)
Reduced vital capacity	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Alltid
Tube feeding	Alltid
Poor swallowing	Svært ofte (80–99 %)
Gastrostomy tube feeding in infancy	Ofte (30–79 %)
Nasogastric tube feeding	Ofte (30–79 %)
Neuromuscular dysphagia	Ofte (30–79 %)
Poor appetite	Ofte (30–79 %)
Feeding difficulties in infancy	Noen ganger (5–29 %)
Nasogastric tube feeding in infancy	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Cardiac conduction abnormality	Ofte (30–79 %)
Abnormality of the heart	Noen ganger (5–29 %)
Cor pulmonale	Noen ganger (5–29 %)
Disease of the heart muscle	Noen ganger (5–29 %)
Enlarged heart	Noen ganger (5–29 %)
Heart stops beating	Noen ganger (5–29 %)
Slow heartbeats	Noen ganger (5–29 %)
Stretched and thinned heart muscle	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Feet or buttocks of fetus positioned near opening of uterus	Alltid
Less than 10 fetal movements in 12 hours	Svært ofte (80–99 %)
High levels of amniotic fluid	Ofte (30–79 %)
Fetal akinesia sequence	Noen ganger (5–29 %)
Premature birth	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Chylothorax	Alltid
Elevated blood creatine phosphokinase	Svært ofte (80–99 %)
Increased muscle lipid content	Ofte (30–79 %)
Edema of the dorsum of hands	Noen ganger (5–29 %)
Mildly elevated creatine kinase	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Drooping upper eyelid	Noen ganger (5–29 %)
Eye muscle paralysis	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Pneumonia	Ofte (30–79 %)
Aspiration pneumonia	Noen ganger (5–29 %)
Recurrent respiratory infections	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Weight loss	Ofte (30–79 %)
Slender build	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Bleeding in brain	Alltid
Subdural hemorrhage	Alltid

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Hypospadias	Noen ganger (5–29 %)
Short penis	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Decreased ability to exercise	Ofte (30–79 %)
Fatigue	Ofte (30–79 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Nemaline bodies	Alltid

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Low-set ears	Noen ganger (5–29 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Hoarse voice	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til ACTA1 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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