Charcot-Marie-Tooth disease type 1F
ORPHA:101085DiseaseAutosomal dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)7
HP:0000762Decreased nerve conduction velocity
HP:0002460Distal muscle weakness
HP:0003202Skeletal muscle atrophy
HP:0003474Somatic sensory dysfunction
HP:0007141Sensorimotor neuropathy
HP:0007220Demyelinating motor neuropathy
HP:0011402Demyelinating sensory neuropathy
Частый (30–79%)24
HP:0001155Abnormality of the hand
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001761Pes cavus
HP:0002066Gait ataxia
HP:0002070Limb ataxia
HP:0002317Unsteady gait
HP:0002346Head tremor
HP:0002378Hand tremor
HP:0002403Positive Romberg sign
HP:0002495Impaired vibratory sensation
HP:0003376Steppage gait
HP:0003387Decreased number of large peripheral myelinated nerve fibers
HP:0004463Absent brainstem auditory responses
HP:0007149Distal upper limb amyotrophy
HP:0007327Mixed demyelinating and axonal polyneuropathy
HP:0007328Impaired pain sensation
HP:0008944Distal lower limb amyotrophy
HP:0009027Foot dorsiflexor weakness
HP:0009053Distal lower limb muscle weakness
HP:0009130Hand muscle atrophy
HP:0010831Impaired proprioception
HP:0010873Cervical spinal cord atrophy
HP:0030237Hand muscle weakness
Периодический (5–29%)18
HP:0000020Urinary incontinence
HP:0000407Sensorineural hearing impairment
HP:0000609Optic nerve hypoplasia
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0002380Fasciculations
HP:0002650Scoliosis
HP:0003394Muscle spasm
HP:0003401Paresthesia
HP:0003691Scapular winging
HP:0008956Proximal lower limb amyotrophy
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0012452Restless legs
HP:0012473Tongue atrophy
HP:0012785Flexion contracture of finger
HP:0030319Weakness of facial musculature
HP:0100543Cognitive impairment
Очень редкий (1–4%)1
HP:0002540Inability to walk
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)