Tunnused

Geeniga NEB seotud tunnused

nebulin

Inimese fenotüübi ontoloogia seostab geeniga NEB 129 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

NEB

Abnormality of the musculoskeletal system

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Ankle flexion contracture	Sageli (30–79%)
Calf muscle pseudohypertrophy	Sageli (30–79%)
Foot drop	Sageli (30–79%)
Limb muscle weakness	Sageli (30–79%)
Limb-girdle muscle weakness	Sageli (30–79%)
Weakness of long finger extensor muscles	Sageli (30–79%)
Weakness of the intrinsic hand muscles	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Inward turned thumb	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Outward bow-leggedness	Mõnikord (5–29%)
Thenar muscle atrophy	Mõnikord (5–29%)
Winged shoulder blade	Mõnikord (5–29%)
Hand clenching	Pole registreeritud
Talipes	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Akinesia	Alati
Abnormal gait	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Decreased muscle movement	Sageli (30–79%)
Decreased reflex response	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Slow movements	Sageli (30–79%)
Absent reflexes	Mõnikord (5–29%)
Bulbar signs	Mõnikord (5–29%)
Difficulty articulating speech	Mõnikord (5–29%)
Falls	Mõnikord (5–29%)
High stepping	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)
Waddling gait	Mõnikord (5–29%)
Inability to walk	Pole registreeritud
Poor fine motor coordination	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Weakness of facial musculature	Väga sageli (80–99%)
Bell's palsy	Sageli (30–79%)
High palate	Sageli (30–79%)
Myopathic facies	Sageli (30–79%)
Narrow mouth	Sageli (30–79%)
Facial diplegia	Mõnikord (5–29%)
High, narrow palate	Mõnikord (5–29%)
Little lower jaw	Mõnikord (5–29%)
Long face	Mõnikord (5–29%)
Long philtrum	Mõnikord (5–29%)
Narrow face	Mõnikord (5–29%)
Short neck	Mõnikord (5–29%)
Wide fontanelles	Mõnikord (5–29%)
Cleft palate	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Respiratory failure	Alati
Breathing difficulties	Sageli (30–79%)
Respiratory function loss	Sageli (30–79%)
Exertional breathlessness	Mõnikord (5–29%)
Nocturnal hypoventilation	Mõnikord (5–29%)
Poorly developed lungs	Mõnikord (5–29%)
Reduced vital capacity	Mõnikord (5–29%)
Apnea	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Alati
Feet or buttocks of fetus positioned near opening of uterus	Sageli (30–79%)
High levels of amniotic fluid	Sageli (30–79%)
Fetal akinesia sequence	Mõnikord (5–29%)
Premature birth	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Disease of the heart muscle	Mõnikord (5–29%)
Enlarged heart	Mõnikord (5–29%)
Heart stops beating	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Neuromuscular dysphagia	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Feeding difficulties	Mõnikord (5–29%)
Feeding difficulties in infancy	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Drooping upper eyelid	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)
Abnormality of the eye	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Increased muscle lipid content	Sageli (30–79%)
Edema of the dorsum of hands	Mõnikord (5–29%)
Elevated blood creatine phosphokinase	Mõnikord (5–29%)
Mildly elevated creatine kinase	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Nemaline bodies	Alati
Mitochondrial depletion	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hypospadias	Mõnikord (5–29%)
Short penis	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Decreased ability to exercise	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Slender build	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga NEB seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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