Tunnused

Geeniga MPZ seotud tunnused

myelin protein zero

Inimese fenotüübi ontoloogia seostab geeniga MPZ 85 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent reflexes	Alati
Decreased motor nerve conduction velocity	Alati
Decreased number of peripheral myelinated nerve fibers	Alati
Decreased reflex response	Alati
Decreased sensation in extremities	Alati
Decreased sensory nerve conduction velocity	Alati
Delayed ability to stand	Alati
Delayed ability to walk	Alati
Impaired distal vibration sensation	Alati
Motor delay	Alati
Myelin tomacula	Alati
Onion bulb formation	Alati
Peripheral demyelination	Alati
Persistent head lag	Alati
Segmental peripheral demyelination/remyelination	Alati
Sensory ataxia	Alati
Wide based walk	Alati
Abnormal gait	Sageli (30–79%)
Acute demyelinating polyneuropathy	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Decreased nerve conduction velocity	Sageli (30–79%)
Impaired pain sensation	Sageli (30–79%)
Impaired temperature sensation	Sageli (30–79%)
Impaired vibratory sensation	Sageli (30–79%)
Inability to coordinate movements when walking	Sageli (30–79%)
Limb ataxia	Sageli (30–79%)
Nerve damage causing decreased feeling and movement	Sageli (30–79%)
Peripheral axonal neuropathy	Sageli (30–79%)
Peripheral dysmyelination	Sageli (30–79%)
Postural tremor	Sageli (30–79%)
Somatic sensory dysfunction	Sageli (30–79%)
Unsteady walk	Sageli (30–79%)
Babinski sign	Mõnikord (5–29%)
Action tremor	Pole registreeritud
Axonal degeneration/regeneration	Pole registreeritud
Decreased muscle movement	Pole registreeritud
High stepping	Pole registreeritud
Hypertrophic nerve changes	Pole registreeritud
Inability to walk	Pole registreeritud
Myelin outfoldings	Pole registreeritud
Peripheral neuropathy	Pole registreeritud
Upper limb postural tremor	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Distal muscle wasting	Alati
Low muscle tone	Alati
Muscle weakness	Alati
Proximal neurogenic muscle weakness	Alati
Scoliosis	Alati
Weakness of outermost muscles	Alati
Increased skeletal muscle cells	Sageli (30–79%)
Kyphoscoliosis	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Frequent falls	Mõnikord (5–29%)
Cold-induced muscle cramps	Pole registreeritud
Decreased lung function due to weak breathing muscles	Pole registreeritud
Poor head control	Pole registreeritud
Severely decreased muscle tone	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Distal lower limb muscle weakness	Alati
Dropped arches	Alati
High-arched foot	Alati
Club feet	Sageli (30–79%)
Lower limb muscle weakness	Sageli (30–79%)
Intrinsic hand muscle atrophy	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Decreased arm strength	Pole registreeritud
Foot drop	Pole registreeritud
Hammertoe	Pole registreeritud
Limb muscle weakness	Pole registreeritud
Split hand	Pole registreeritud
Ulnar claw	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormality of the pupil	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Slow pupillary light response	Pole registreeritud
Tonic pupil	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Sageli (30–79%)
Progressive sensorineural hearing impairment	Pole registreeritud
Sensorineural hearing impairment	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Facial diplegia	Alati
Tongue twitching	Alati

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Sageli (30–79%)
Increased CSF protein concentration	Sageli (30–79%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Poor swallowing	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Urinary bladder sphincter dysfunction	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the immune system	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Recurrent coughing spasms	Alati

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 MPZ seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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