Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
ORPHA:521411DiseaseAutosomal recessiveAdolescent, Infancy
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)19
HP:0000508Ptosis
HP:0000577Exotropia
HP:0001260Dysarthria
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001349Facial diplegia
HP:0001763Pes planus
HP:0002151Increased circulating lactate concentration
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002312Clumsiness
HP:0002359Frequent falls
HP:0002380Fasciculations
HP:0003376Steppage gait
HP:0003444EMG: chronic denervation signs
HP:0007178Motor polyneuropathy
HP:0007340Lower limb muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0009055Generalized limb muscle atrophy
HP:0010836Abnormality of copper homeostasis
Исключён (0%)2
HP:0001638Cardiomyopathy
HP:0040081Abnormal circulating creatine kinase concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)