| 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:0001761 | Pes cavus | |
Show
|
| HP:0002355 | Difficulty walking | |
Show
|
| HP:0002380 | Fasciculations | "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] |
Show
|
| HP:0003394 | Muscle cramps | |
Show
|
| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
Show
|
| HP:0003444 | EMG shows chronic denervation | |
Show
|
| HP:0003677 | Slow progression | |
Show
|
| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
Show
|
| HP:0003828 | Variable expressivity | |
Show
|
| HP:0007210 | Lower limb hypotrophy | |
Show
|
| HP:0007269 | Spinal muscular atrophy | "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] |
Show
|
| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
Show
|
| HP:0009005 | Weakness of the intrinsic hand muscles | |
Show
|
| HP:0009046 | Difficulty walking, running, climbing stairs | |
Show
|
| HP:0009072 | Hyporeflexia at ankle joints | |
Show
|
| HP:0031108 | Triceps weakness | "A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements." [] |
Show
|
