Myotonia Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
38
|
0.900 |
None |
0.968 |
95 |
37
|
1982 |
2019 |
Generalized Myotonia of Thomsen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
61
|
0.800 |
None |
0.977 |
130 |
61
|
1992 |
2019 |
Becker Generalized Myotonia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
67
|
0.800 |
None |
1.000 |
98 |
67
|
1992 |
2018 |
Myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
19
|
7
|
0.430 |
None |
1.000 |
4 |
5
|
2002 |
2012 |
Myotonia Levior
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.410 |
None |
1.000 |
2 |
1
|
1995 |
2010 |
Hyperkalemic periodic paralysis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
30
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.300 |
None |
|
0 |
1
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.180 |
None |
1.000 |
8 |
1
|
2000 |
2019 |
Muscular stiffness
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
92
|
6
|
0.150 |
None |
1.000 |
5 |
|
2012 |
2018 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Lumbar hyperlordosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
92
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Skeletal muscle hypertrophy
|
phenotype |
|
Organ or Tissue Function
|
21
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
113
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Handgrip myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypertrophy of the lower extremities
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Lid lag
|
phenotype |
|
Sign or Symptom
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
320
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
EMG: myotonic runs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Myotonia with warm-up phenomenon
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Myotonia of the upper limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|