X-linked Charcot-Marie-Tooth disease type 3
ORPHA:101077DiseaseX-linked recessiveAdolescent, Childhood
Фенотипы (HPO)28
Частый (30–79%)17
HP:0001288Gait disturbance
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001288Gait disturbance
HP:0001760Abnormal foot morphology
HP:0001761Pes cavus
HP:0003431Decreased motor nerve conduction velocity
HP:0003474Somatic sensory dysfunction
HP:0003693Distal amyotrophy
HP:0007141Sensorimotor neuropathy
HP:0008110Equinovarus deformity
HP:0008944Distal lower limb amyotrophy
HP:0008954Intrinsic hand muscle atrophy
HP:0009027Foot dorsiflexor weakness
HP:0009063Progressive distal muscle weakness
HP:0030237Hand muscle weakness
HP:0031936Delayed ability to walk
Периодический (5–29%)11
HP:0001265Hyporeflexia
HP:0001337Tremor
HP:0001385Hip dysplasia
HP:0002091Restrictive ventilatory defect
HP:0002540Inability to walk
HP:0002650Scoliosis
HP:0003477Peripheral axonal neuropathy
HP:0007108Demyelinating peripheral neuropathy
HP:0007149Distal upper limb amyotrophy
HP:0008081Pes valgus
HP:0008994Proximal muscle weakness in lower limbs
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Family(ies) |
| 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)