Steinert myotonic dystrophy

ORPHA:273 · Disease · Disorder

HPO 表現型（共 108 項）

Obligate (100%)(1)

Muscle weaknessHP:0001324

Very frequent (99-80%)(6)

Cardiac conduction abnormalityHP:0031546
Distal muscle weaknessHP:0002460
EMG: myotonic dischargesHP:0100284
Excessive daytime somnolenceHP:0001262
Myotonia with warm-up phenomenonHP:0003740
Posterior subcapsular cataractHP:0007787

Frequent (79-30%)(17)

Abnormal rapid eye movement sleepHP:0002494
Abnormality of masticatory muscleHP:0410011
Atrial fibrillationHP:0005110
Atypical behaviorHP:0000708
Cognitive impairmentHP:0100543
Fatigable weakness of bulbar musclesHP:0030192
FatigueHP:0012378
Foot dorsiflexor weaknessHP:0009027
Gait disturbanceHP:0001288
HypersomniaHP:0100786
Impairment in personality functioningHP:0031466
MyalgiaHP:0003326
Obstructive sleep apneaHP:0002870
Poor fine motor coordinationHP:0007010
Prolonged PR intervalHP:0012248
Prolonged QRS complexHP:0006677
Weakness of facial musculatureHP:0030319

Occasional (29-5%)(68)

Abnormal cerebral white matter morphologyHP:0002500
Abnormality of the tongue muscleHP:0040173
Abnormality of thyroid physiologyHP:0002926
AlopeciaHP:0001596
AnxietyHP:0000739
AstigmatismHP:0000483
Autistic behaviorHP:0000729
Bilateral ptosisHP:0001488
Borderline intellectual disabilityHP:0006889
Cerebral cortical atrophyHP:0002120
CholelithiasisHP:0001081
ConstipationHP:0002019
Decreased fertilityHP:0000144
Decreased fetal movementHP:0001558
Decreased serum testosterone concentrationHP:0040171
DepressionHP:0000716
Diabetes mellitusHP:0000819
Diaphragmatic weaknessHP:0009113
DiarrheaHP:0002014
Distal amyotrophyHP:0003693
DysarthriaHP:0001260
Early baldingHP:0002234
Elevated circulating hepatic transaminase concentrationHP:0002910
Emotional labilityHP:0000712
Facial diplegiaHP:0001349
FallsHP:0002527
Feeding difficulties in infancyHP:0008872
Global developmental delayHP:0001263
Handgrip myotoniaHP:0012899
HypercholesterolemiaHP:0003124
Hypergonadotropic hypogonadismHP:0000815
HyperinsulinemiaHP:0000842
HypermetropiaHP:0000540
Impaired visuospatial constructive cognitionHP:0010794
ImpotenceHP:0000802
Insulin resistanceHP:0000855
Intestinal pseudo-obstructionHP:0004389
Left ventricular systolic dysfunctionHP:0025169
Limited extraocular movementsHP:0007941
Male hypogonadismHP:0000026
Mental deteriorationHP:0001268
Mild fetal ventriculomegalyHP:0010952
Mild intellectual disabilityHP:0001256
Myotonia of the jawHP:0012901
Myotonia of the upper limbHP:0012903
Nasogastric tube feeding in infancyHP:0011470
Neck flexor weaknessHP:0003722
Neck muscle weaknessHP:0000467
Neonatal hypotoniaHP:0001319
OphthalmoplegiaHP:0000602
Oral-pharyngeal dysphagiaHP:0200136
ParanoiaHP:0011999
Peripheral neuropathyHP:0009830
PolyhydramniosHP:0001561
Proximal muscle weaknessHP:0003701
Reduced visual acuityHP:0007663
Respiratory failureHP:0002878
Respiratory failure requiring assisted ventilationHP:0004887
Respiratory insufficiencyHP:0002093
Respiratory insufficiency due to muscle weaknessHP:0002747
Secondary hyperparathyroidismHP:0000867
Short attention spanHP:0000736
Skeletal muscle atrophyHP:0003202
Specific learning disabilityHP:0001328
Supraventricular tachycardiaHP:0004755
Talipes equinovarusHP:0001762
Tented upper lip vermilionHP:0010804
Testicular atrophyHP:0000029

Very rare (<4-1%)(16)

Aggressive behaviorHP:0000718
AutismHP:0000717
Brain neoplasmHP:0030692
Choroidal melanomaHP:0012054
Colon cancerHP:0003003
Decreased response to growth hormone stimulation testHP:0000824
Dilated cardiomyopathyHP:0001644
Endometrial carcinomaHP:0012114
Inability to walkHP:0002540
Neoplasm of the skinHP:0008069
Non-medullary thyroid carcinomaHP:0040198
Obsessive-compulsive traitHP:0008770
Ovarian carcinomaHP:0025318
Pelvic girdle muscle weaknessHP:0003749
Peripheral axonal neuropathyHP:0003477
Shoulder girdle muscle weaknessHP:0003547