Autosomal recessive axonal neuropathy with neuromyotonia
ORPHA:324442DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)47
Очень частый (80–99%)5
HP:0002411Myokymia
HP:0002486Myotonia
HP:0003444EMG: chronic denervation signs
HP:0009053Distal lower limb muscle weakness
HP:0100288EMG: myokymic discharges
Частый (30–79%)13
HP:0001288Gait disturbance
HP:0001315Reduced tendon reflexes
HP:0001760Abnormal foot morphology
HP:0002359Frequent falls
HP:0003236Elevated circulating creatine kinase concentration
HP:0003438Absent Achilles reflex
HP:0003546Exercise intolerance
HP:0003710Exercise-induced muscle cramps
HP:0007002Motor axonal neuropathy
HP:0007178Motor polyneuropathy
HP:0007289Limb fasciculations
HP:0012899Handgrip myotonia
HP:0030198Fatigable weakness of distal limb muscles
Периодический (5–29%)22
HP:0001284Areflexia
HP:0001371Flexion contracture
HP:0001761Pes cavus
HP:0001771Achilles tendon contracture
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002273Tetraparesis
HP:0002356Writer's cramp
HP:0002505Loss of ambulation
HP:0003376Steppage gait
HP:0003390Sensory axonal neuropathy
HP:0003401Paresthesia
HP:0003409Distal sensory impairment of all modalities
HP:0003552Muscle stiffness
HP:0003760Percussion-induced rapid rolling muscle contractions
HP:0008944Distal lower limb amyotrophy
HP:0008954Intrinsic hand muscle atrophy
HP:0008991Exercise-induced leg cramps
HP:0009005Weakness of the intrinsic hand muscles
HP:0009027Foot dorsiflexor weakness
HP:0009049Peroneal muscle atrophy
HP:0009077Weakness of long finger extensor muscles
HP:0009130Hand muscle atrophy
Очень редкий (1–4%)7
HP:0000975Hyperhidrosis
HP:0001171Split hand
HP:0001256Intellectual disability, mild
HP:0001328Specific learning disability
HP:0002943Thoracic scoliosis
HP:0004686Short third metatarsal
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 33 | 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)