Požymiai

Su NEB susiję požymiai

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Žmogaus fenotipo ontologija sieja 129 požymių su NEB, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

NEB

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Arthrogryposis multiplex congenita	Labai dažnai (80–99%)
EMG: myopathic abnormalities	Labai dažnai (80–99%)
Generalized muscle weakness	Labai dažnai (80–99%)
Muscle tissue disease	Labai dažnai (80–99%)
Severely decreased muscle tone	Labai dažnai (80–99%)
Abnormality of the chest	Dažnai (30–79%)
Axial muscle weakness	Dažnai (30–79%)
Fatigable weakness of distal limb muscles	Dažnai (30–79%)
Fatty replacement of skeletal muscle	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Generalized muscle wasting	Dažnai (30–79%)
Increased connective tissue	Dažnai (30–79%)
Increased variability in muscle fiber diameter	Dažnai (30–79%)
Low muscle tone, in neonatal onset	Dažnai (30–79%)
Multiple fractures present at birth	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Muscle stiffness	Dažnai (30–79%)
Neck flexion weakness	Dažnai (30–79%)
Progressive distal muscle weakness	Dažnai (30–79%)
Reduced spine movement	Dažnai (30–79%)
Sternocleidomastoid amyotrophy	Dažnai (30–79%)
Type 1 muscle fiber predominance	Dažnai (30–79%)
Abnormality of the diaphragm	Kartais (5–29%)
Decreased lung function due to weak breathing muscles	Kartais (5–29%)
Fatigable weakness of bulbar muscles	Kartais (5–29%)
Fatigable weakness of respiratory muscles	Kartais (5–29%)
Fatiguable weakness of proximal limb muscles	Kartais (5–29%)
Frequent falls	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Muscle fiber splitting	Kartais (5–29%)
Narrow chest	Kartais (5–29%)
Neck muscle weakness	Kartais (5–29%)
Progressive proximal muscle weakness	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Rimmed vacuoles	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Thin ribs	Kartais (5–29%)
Tired easily	Kartais (5–29%)
Hunched back	Retai (1–4 %)
Abnormality of the rib cage	Neužfiksuota
Bulbar palsy	Neužfiksuota
Congenital contracture	Neužfiksuota
EMG: neuropathic changes	Neužfiksuota
Late-onset distal muscle weakness	Neužfiksuota
Proximal neurogenic muscle weakness	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Ankle flexion contracture	Dažnai (30–79%)
Calf muscle pseudohypertrophy	Dažnai (30–79%)
Foot drop	Dažnai (30–79%)
Limb muscle weakness	Dažnai (30–79%)
Limb-girdle muscle weakness	Dažnai (30–79%)
Weakness of long finger extensor muscles	Dažnai (30–79%)
Weakness of the intrinsic hand muscles	Dažnai (30–79%)
Club feet	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Inward turned thumb	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Outward bow-leggedness	Kartais (5–29%)
Thenar muscle atrophy	Kartais (5–29%)
Winged shoulder blade	Kartais (5–29%)
Hand clenching	Neužfiksuota
Talipes	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Akinesia	Visada
Abnormal gait	Dažnai (30–79%)
Clumsiness	Dažnai (30–79%)
Decreased muscle movement	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Absent reflexes	Kartais (5–29%)
Bulbar signs	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Falls	Kartais (5–29%)
High stepping	Kartais (5–29%)
Tremor	Kartais (5–29%)
Waddling gait	Kartais (5–29%)
Inability to walk	Neužfiksuota
Poor fine motor coordination	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Weakness of facial musculature	Labai dažnai (80–99%)
Bell's palsy	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Myopathic facies	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Facial diplegia	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long face	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Narrow face	Kartais (5–29%)
Short neck	Kartais (5–29%)
Wide fontanelles	Kartais (5–29%)
Cleft palate	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Respiratory failure	Visada
Breathing difficulties	Dažnai (30–79%)
Respiratory function loss	Dažnai (30–79%)
Exertional breathlessness	Kartais (5–29%)
Nocturnal hypoventilation	Kartais (5–29%)
Poorly developed lungs	Kartais (5–29%)
Reduced vital capacity	Kartais (5–29%)
Apnea	Neužfiksuota

Abnormality of prenatal development or birth

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

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Disease of the heart muscle	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Heart stops beating	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Neuromuscular dysphagia	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Feeding difficulties	Kartais (5–29%)
Feeding difficulties in infancy	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 eye	Neužfiksuota

Laboratory abnormality

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

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Nemaline bodies	Visada
Mitochondrial depletion	Neužfiksuota

Abnormality of the genitourinary system

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

Abnormality of the ear

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

Constitutional symptom

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

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Slender build	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.

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

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