Autosomal dominant Charcot-Marie-Tooth disease type 2Y
ORPHA:435387DiseaseAutosomal dominantAdult, Childhood
Ассоциированные гены1
Фенотипы (HPO)43
Частый (30–79%)17
HP:0000762Decreased nerve conduction velocity
HP:0001288Gait disturbance
HP:0001761Pes cavus
HP:0002141Gait imbalance
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002460Distal muscle weakness
HP:0002936Distal sensory impairment
HP:0003438Absent Achilles reflex
HP:0003477Peripheral axonal neuropathy
HP:0003693Distal amyotrophy
HP:0007010Poor fine motor coordination
HP:0007141Sensorimotor neuropathy
HP:0008959Distal upper limb muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0009046Difficulty running
HP:0009130Hand muscle atrophy
HP:0010830Impaired tactile sensation
Периодический (5–29%)26
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0001260Dysarthria
HP:0001315Reduced tendon reflexes
HP:0001765Hammertoe
HP:0002094Dyspnea
HP:0002136Broad-based gait
HP:0002354Memory impairment
HP:0002359Frequent falls
HP:0002938Lumbar hyperlordosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003376Steppage gait
HP:0003394Muscle spasm
HP:0003401Paresthesia
HP:0003551Difficulty climbing stairs
HP:0003691Scapular winging
HP:0003701Proximal muscle weakness
HP:0003731Quadriceps muscle weakness
HP:0006389Limited knee flexion
HP:0006886Impaired distal vibration sensation
HP:0006944Abolished vibration sense
HP:0007328Impaired pain sensation
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0009053Distal lower limb muscle weakness
HP:0030051Tip-toe gait
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)