Autosomal dominant Charcot-Marie-Tooth disease type 2Z
ORPHA:466768DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)72
Очень частый (80–99%)8
HP:0001315Reduced tendon reflexes
HP:0002460Distal muscle weakness
HP:0003390Sensory axonal neuropathy
HP:0007210Lower limb amyotrophy
HP:0007327Mixed demyelinating and axonal polyneuropathy
HP:0008944Distal lower limb amyotrophy
HP:0009053Distal lower limb muscle weakness
HP:0100290Abnormality of peripheral somatosensory evoked potentials
Частый (30–79%)22
HP:0001249Intellectual disability
HP:0001288Gait disturbance
HP:0001328Specific learning disability
HP:0001337Tremor
HP:0002493Upper motor neuron dysfunction
HP:0002495Impaired vibratory sensation
HP:0003130Abnormal peripheral myelination
HP:0003474Somatic sensory dysfunction
HP:0003484Upper limb muscle weakness
HP:0003487Babinski sign
HP:0003693Distal amyotrophy
HP:0004302Functional motor deficit
HP:0007002Motor axonal neuropathy
HP:0007230Decreased distal sensory nerve action potential
HP:0008948Proximal upper limb amyotrophy
HP:0009046Difficulty running
HP:0009129Upper limb amyotrophy
HP:0009473Joint contracture of the hand
HP:0010830Impaired tactile sensation
HP:0012378Fatigue
HP:0012785Flexion contracture of finger
HP:0040131Abnormal motor nerve conduction velocity
Периодический (5–29%)33
HP:0000365Hearing impairment
HP:0000467Neck muscle weakness
HP:0001047Atopic dermatitis
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001620Abnormally high-pitched voice
HP:0001761Pes cavus
HP:0002167Abnormality of speech or vocalization
HP:0002380Fasciculations
HP:0002411Myokymia
HP:0002500Abnormal cerebral white matter morphology
HP:0002540Inability to walk
HP:0003324Generalized muscle weakness
HP:0003325Limb-girdle muscle weakness
HP:0003394Muscle spasm
HP:0003701Proximal muscle weakness
HP:0003797Limb-girdle muscle atrophy
HP:0005879Congenital finger flexion contractures
HP:0006827Atrophy of the spinal cord
HP:0006970Periventricular leukomalacia
HP:0007269Spinal muscular atrophy
HP:0007641Dyschromatopsia
HP:0007703Abnormality of retinal pigmentation
HP:0008959Distal upper limb muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0009027Foot dorsiflexor weakness
HP:0012444Brain atrophy
HP:0012447Abnormal myelination
HP:0012473Tongue atrophy
HP:0030051Tip-toe gait
HP:0030237Hand muscle weakness
HP:0031947Tongue tremor
Очень редкий (1–4%)9
HP:0000020Urinary incontinence
HP:0000252Microcephaly
HP:0000518Cataract
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001290Generalized hypotonia
HP:0001999Abnormal facial shape
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0006597Diaphragmatic paralysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 21 | 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)