Steinert myotonic dystrophy
ORPHA:273DiseaseAutosomal dominantAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)108
Облигатный (100%)1
HP:0001324Muscle weakness
Очень частый (80–99%)6
HP:0001262Excessive daytime somnolence
HP:0002460Distal muscle weakness
HP:0003740Myotonia with warm-up phenomenon
HP:0007787Posterior subcapsular cataract
HP:0031546Cardiac conduction abnormality
HP:0100284EMG: myotonic discharges
Частый (30–79%)17
HP:0003326Myalgia
HP:0005110Atrial fibrillation
HP:0006677Prolonged QRS complex
HP:0007010Poor fine motor coordination
HP:0009027Foot dorsiflexor weakness
HP:0012248Prolonged PR interval
HP:0012378Fatigue
HP:0030192Fatigable weakness of bulbar muscles
HP:0030319Weakness of facial musculature
HP:0031466Impairment in personality functioning
HP:0100543Cognitive impairment
HP:0100786Hypersomnia
HP:0410011Abnormality of masticatory muscle
HP:0000708Atypical behavior
HP:0001288Gait disturbance
HP:0002494Abnormal rapid eye movement sleep
HP:0002870Obstructive sleep apnea
Периодический (5–29%)68
HP:0000026Male hypogonadism
HP:0000029Testicular atrophy
HP:0000144Decreased fertility
HP:0000467Neck muscle weakness
HP:0000483Astigmatism
HP:0000540Hypermetropia
HP:0000602Ophthalmoplegia
HP:0000712Emotional lability
HP:0000716Depression
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000739Anxiety
HP:0000802Impotence
HP:0000815Hypergonadotropic hypogonadism
HP:0000819Diabetes mellitus
HP:0000842Hyperinsulinemia
HP:0000855Insulin resistance
HP:0000867Secondary hyperparathyroidism
HP:0001081Cholelithiasis
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001268Mental deterioration
HP:0001319Neonatal hypotonia
HP:0001328Specific learning disability
HP:0001349Facial diplegia
HP:0001488Bilateral ptosis
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0001596Alopecia
HP:0001762Talipes equinovarus
HP:0002014Diarrhea
HP:0002019Constipation
HP:0002093Respiratory insufficiency
HP:0002120Cerebral cortical atrophy
HP:0002234Early balding
HP:0002500Abnormal cerebral white matter morphology
HP:0002527Falls
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002878Respiratory failure
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002926Abnormality of thyroid physiology
HP:0003124Hypercholesterolemia
HP:0003202Skeletal muscle atrophy
HP:0003693Distal amyotrophy
HP:0003701Proximal muscle weakness
HP:0003722Neck flexor weakness
HP:0004389Intestinal pseudo-obstruction
HP:0004755Supraventricular tachycardia
HP:0004887Respiratory failure requiring assisted ventilation
HP:0006889Intellectual disability, borderline
HP:0007663Reduced visual acuity
HP:0007941Limited extraocular movements
HP:0008872Feeding difficulties in infancy
HP:0009113Diaphragmatic weakness
HP:0009830Peripheral neuropathy
HP:0010794Impaired visuospatial constructive cognition
HP:0010804Tented upper lip vermilion
HP:0010952Mild fetal ventriculomegaly
HP:0011470Nasogastric tube feeding in infancy
HP:0011999Paranoia
HP:0012899Handgrip myotonia
HP:0012901Myotonia of the jaw
HP:0012903Myotonia of the upper limb
HP:0025169Left ventricular systolic dysfunction
HP:0040171Decreased serum testosterone concentration
HP:0040173Abnormality of the tongue muscle
HP:0200136Oral-pharyngeal dysphagia
Очень редкий (1–4%)16
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000824Decreased response to growth hormone stimulation test
HP:0001644Dilated cardiomyopathy
HP:0002540Inability to walk
HP:0003003Colon cancer
HP:0003477Peripheral axonal neuropathy
HP:0003547Shoulder girdle muscle weakness
HP:0003749Pelvic girdle muscle weakness
HP:0008069Neoplasm of the skin
HP:0008770Obsessive-compulsive trait
HP:0012054Choroidal melanoma
HP:0012114Endometrial carcinoma
HP:0025318Ovarian carcinoma
HP:0030692Brain neoplasm
HP:0040198Non-medullary thyroid carcinoma
Эпидемиология16
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.5 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.4 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.9 | Iceland | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.3 | Serbia | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.13 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.46 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-5 / 10 000 | 14.3 | South Africa | Value and class |
| Point prevalence | 6-9 / 10 000 | 76.3 | Specific population | Value and class |
| Point prevalence | >1 / 1000 | 210.5 | Specific population | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.2 | Serbia | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.31 | Italy | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.95 | Ireland | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.7 | Specific population | Value and class |
| Point prevalence | 1-5 / 10 000 | 18.1 | Croatia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)