| 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:0001425 | Heterogeneous | |
Show
|
| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
Show
|
| HP:0003236 | Elevated serum creatine phosphokinase | |
Show
|
| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
Show
|
| HP:0003551 | Difficulty climbing stairs | |
Show
|
| HP:0003555 | Muscle fiber splitting | "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177] |
Show
|
| HP:0003557 | Increased variability in muscle fiber size | "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
Show
|
| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
Show
|
| HP:0003581 | Onset in adulthood | |
Show
|
| HP:0003677 | Slow progression | |
Show
|
| HP:0003678 | Rapidly progressive | |
Show
|
| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
Show
|
| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
Show
|
| HP:0003791 | Deposits immunoreactive to beta-amyloid protein | |
Show
|
| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
Show
|
| HP:0009025 | Increased connective tissue | "The presence of an abnormally increased amount of connective tissue." [HPO:curators] |
Show
|
| HP:0009046 | Difficulty walking, running, climbing stairs | |
Show
|
| HP:0009072 | Hyporeflexia at ankle joints | |
Show
|
| HP:0010546 | Muscle fibrillation | "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG." [HPO:curators] |
Show
|
| HP:0200101 | Decreased/absent ankle reflexes | |
Show
|
