Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ORPHA:101097DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)15
HP:0000764Peripheral axonal degeneration
HP:0002495Impaired vibratory sensation
HP:0002936Distal sensory impairment
HP:0003202Skeletal muscle atrophy
HP:0003447Axonal loss
HP:0007141Sensorimotor neuropathy
HP:0007249Decreased number of small peripheral myelinated nerve fibers
HP:0007267Chronic axonal neuropathy
HP:0007328Impaired pain sensation
HP:0008959Distal upper limb muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0009053Distal lower limb muscle weakness
HP:0010830Impaired tactile sensation
HP:0011096Peripheral demyelination
Частый (30–79%)19
HP:0000925Abnormality of the vertebral column
HP:0001171Split hand
HP:0001284Areflexia
HP:0001315Reduced tendon reflexes
HP:0001371Flexion contracture
HP:0001604Vocal cord paresis
HP:0001609Hoarse voice
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002317Unsteady gait
HP:0002359Frequent falls
HP:0002505Loss of ambulation
HP:0003731Quadriceps muscle weakness
HP:0006858Impaired distal proprioception
HP:0007233Clusters of axonal regeneration
HP:0008954Intrinsic hand muscle atrophy
HP:0011727Peroneal muscle weakness
HP:0030237Hand muscle weakness
HP:0031629Impaired tandem gait
Периодический (5–29%)2
HP:0000765Abnormal thorax morphology
HP:0001270Motor delay
Исключён (0%)1
HP:0000762Decreased nerve conduction velocity
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)