Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
ORPHA:90103Malformation syndromeAutosomal recessiveInfancy
Фенотипы (HPO)30
Очень частый (80–99%)7
HP:0000762Decreased nerve conduction velocity
HP:0001256Intellectual disability, mild
HP:0003387Decreased number of large peripheral myelinated nerve fibers
HP:0007078Decreased amplitude of sensory action potentials
HP:0007141Sensorimotor neuropathy
HP:0007210Lower limb amyotrophy
HP:0008625Severe sensorineural hearing impairment
Частый (30–79%)19
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001344Absent speech
HP:0001531Failure to thrive in infancy
HP:0001761Pes cavus
HP:0002066Gait ataxia
HP:0002522Areflexia of lower limbs
HP:0003134Abnormality of peripheral nerve conduction
HP:0003409Distal sensory impairment of all modalities
HP:0003438Absent Achilles reflex
HP:0006938Impaired vibration sensation at ankles
HP:0008944Distal lower limb amyotrophy
HP:0008954Intrinsic hand muscle atrophy
HP:0008959Distal upper limb muscle weakness
HP:0008962Calf muscle hypoplasia
HP:0009027Foot dorsiflexor weakness
HP:0009031Amyotrophy of ankle musculature
HP:0009053Distal lower limb muscle weakness
HP:0009129Upper limb amyotrophy
Периодический (5–29%)3
HP:0002093Respiratory insufficiency
HP:0012046Areflexia of upper limbs
HP:0012531Pain
Исключён (0%)1
HP:0040078Axonal degeneration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)