| 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] |
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| HP:0000297 | Facial hypotonia | |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001284 | Areflexia | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001611 | Nasal speech | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001771 | Achilles tendon contractures | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002136 | Broad-based gait | "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002515 | Waddling gait | |
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| HP:0002540 | Inability to walk | |
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| HP:0002600 | Hyporeflexia of lower limbs | |
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| HP:0002792 | Reduced vital capacity | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0003198 | Myopathy | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003438 | Absent ankle reflexes | |
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| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
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| HP:0003547 | Shoulder girdle muscle weakness | "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] |
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| HP:0003551 | Difficulty climbing stairs | |
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| HP:0003552 | Muscle stiffness | |
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| 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] |
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| 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] |
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| 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] |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003674 | Age of onset | |
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| HP:0003677 | Slow progression | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003698 | Difficulty standing | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003715 | Muscle biopsy shows myofibrillar myopathy | |
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| HP:0003722 | Neck flexor weakness | "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] |
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| HP:0003736 | Autophagic vacuoles | |
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| HP:0003749 | Pelvic girdle muscle weakness | "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:curators] |
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| HP:0003805 | Rimmed vacuoles | |
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| HP:0003810 | Distal muscle weakness occurs later | |
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| HP:0003828 | Variable expressivity | |
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| HP:0005085 | limited knee flexion/extension | "A limited ability of the knee joint extension and flexion." [HPO:curators] |
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| HP:0006376 | Limited elbow flexion | |
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| HP:0007126 | Proximal amyotrophy | "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators] |
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| HP:0008376 | Nasal, dysarthic speech | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009063 | Muscle weakness, distal, progressive | "Progressively reduced strength of the distal musculature." [HPO:curators] |
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| HP:0012496 | Reduced maximal inspiratory pressure | "A decrease in the maximum amount of negative pressure a person can generate during an inhalation." [ORCID:0000-0001-5208-3432] |
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| HP:0012515 | Hip flexor weakness | "Reduced ability to flex the femur, that is, to pull the knee upward." [ORCID:0000-0001-5208-3432] |
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| HP:0012548 | Skeletal muscle fatty infiltration | "Deposition of fat within muscles." [HPO:probinson] |
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| HP:0100297 | Increased endomysial connective tissue | |
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| HP:0100303 | Muscle fiber cytoplasmatic inclusion bodies | |
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