Tunnused

Geeniga PMP22 seotud tunnused

peripheral myelin protein 22

Inimese fenotüübi ontoloogia seostab geeniga PMP22 121 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal gait	Alati
Absent reflexes	Alati
Acute demyelinating polyneuropathy	Alati
Axonal loss	Alati
Decreased motor nerve conduction velocity	Alati
Decreased reflex response	Alati
Decreased sensation in extremities	Alati
Decreased sensory nerve conduction velocity	Alati
Froment sign	Alati
Hand tingling	Alati
Impaired distal vibration sensation	Alati
Motor delay	Alati
Myelin tomacula	Alati
Numbness	Alati
Onion bulb formation	Alati
Peripheral demyelination	Alati
Segmental peripheral demyelination/remyelination	Alati
Sensory ataxia	Alati
Tremor	Alati
Wide based walk	Alati
Decreased nerve conduction velocity	Väga sageli (80–99%)
Demyelinating peripheral neuropathy	Väga sageli (80–99%)
Peripheral neuropathy	Väga sageli (80–99%)
Abnormality of pain sensation	Sageli (30–79%)
Acroparesthesia	Sageli (30–79%)
Balance impairment	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Dysesthesia	Sageli (30–79%)
Impaired pain sensation	Sageli (30–79%)
Impaired temperature sensation	Sageli (30–79%)
Impaired touch sensation	Sageli (30–79%)
Impaired vibration sensation in the lower limbs	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%)
Pins and needles feeling	Sageli (30–79%)
Postural tremor	Sageli (30–79%)
Somatic sensory dysfunction	Sageli (30–79%)
Unsteady walk	Sageli (30–79%)
Abnormality of balance	Mõnikord (5–29%)
Babinski sign	Mõnikord (5–29%)
Cranial nerve paralysis	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
High stepping	Mõnikord (5–29%)
Inability to move vocal cords	Mõnikord (5–29%)
Inability to walk	Mõnikord (5–29%)
Spontaneous pain sensation	Mõnikord (5–29%)
Hyperactive deep tendon reflexes	Harva (1–4%)
Action tremor	Pole registreeritud
Decreased number of peripheral myelinated nerve fibers	Pole registreeritud
Hypertrophic nerve changes	Pole registreeritud
Myelin outfoldings	Pole registreeritud
Upper limb postural tremor	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Distal lower limb muscle weakness	Alati
Dropped arches	Alati
Foot drop	Alati
Hand muscle weakness	Alati
Limb muscle weakness	Alati
Thenar muscle atrophy	Alati
Thenar muscle weakness	Alati
Areflexia of lower limbs	Sageli (30–79%)
Club feet	Sageli (30–79%)
Decreased/absent ankle reflexes	Sageli (30–79%)
Hand muscle degeneration	Sageli (30–79%)
High-arched foot	Sageli (30–79%)
Hyporeflexia of lower limbs	Sageli (30–79%)
Hyporeflexia of upper limbs	Sageli (30–79%)
Lower limb muscle weakness	Sageli (30–79%)
Peroneal muscle atrophy	Sageli (30–79%)
Peroneal muscle weakness	Sageli (30–79%)
Underdeveloped calf muscles	Sageli (30–79%)
Equinovarus deformity	Mõnikord (5–29%)
Hammertoe	Mõnikord (5–29%)
Increased size of calf muscles	Mõnikord (5–29%)
Intrinsic hand muscle atrophy	Mõnikord (5–29%)
Joint contracture of the hand	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Split hand	Mõnikord (5–29%)
Talipes calcaneovarus	Mõnikord (5–29%)
Talipes calcaneovalgus	Pole registreeritud
Ulnar claw	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Ankle weakness	Alati
Distal muscle wasting	Alati
Proximal neurogenic muscle weakness	Alati
Scoliosis	Alati
Weakness of outermost muscles	Alati
Distal lower limb amyotrophy	Sageli (30–79%)
EMG: neuropathic changes	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Kyphoscoliosis	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Frequent falls	Mõnikord (5–29%)
Muscle spasm	Mõnikord (5–29%)
Scapuloperoneal weakness	Mõnikord (5–29%)
Weak diaphragm	Mõnikord (5–29%)
Cold-induced muscle cramps	Pole registreeritud
Low muscle tone	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	Sageli (30–79%)
Tonic pupil	Sageli (30–79%)
Asymmetric pupil sizes	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Alati
Profound sensorineural hearing impairment	Mõnikord (5–29%)
Ringing in ears	Mõnikord (5–29%)
Hearing impairment	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Tongue twitching	Alati
Drooling	Sageli (30–79%)
Sleepy facial expression	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Cough	Mõnikord (5–29%)
Respiratory function loss	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Exercise-induced muscle pain	Mõnikord (5–29%)
Shoulder pain	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Episodic fever	Sageli (30–79%)
Increased CSF protein concentration	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Impaired oropharyngeal swallow response	Sageli (30–79%)

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 voice

Tunnus	Kui sageli seda täheldatakse
Abnormality of the voice	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 PMP22 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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