| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002486 | Myotonia | "Myotonia is characterized by an abnormally slow relaxation of the muscles after voluntary contraction or electrical stimulation. During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand." [HPO:curators] |
Show
|
| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
Show
|
| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
Show
|
| HP:0003552 | Muscle stiffness | |
Show
|
| HP:0003712 | Muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] |
Show
|
| HP:0003730 | EMG shows spontaneous, repetitive electrical activity ( myotonic runs ) | |
Show
|
| HP:0003740 | Myotonia improves with continued activity ( warm-up phenomenon ) | |
Show
|
| HP:0003812 | Phenotypic variability | |
Show
|
| HP:0008968 | Muscle hypertrophy of the lower extremities | "Muscle hypertrophy primarily affecting the legs." [HPO:curators] |
Show
|
| HP:0010548 | Percussion myotonia | "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner s finger, a rubber percussion hammer, or a similar object)." [HPO:curators] |
Show
|
| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
Show
|
| HP:0012899 | Handgrip myotonia | "Difficulty releasing one s grip associated with prolonged first handgrip relaxation times." [pmid:22987687, UToronto:htrang] |
Show
|
