| HPO |
HP:0003736 |
Autophagic vacuoles |
"The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue." [HPO:probinson, PMID:17027858] |
— |
HP:0004303 |
| HPO |
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] |
— |
HP:0001435, HP:0003325 |
| HPO |
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] |
— |
HP:0004347 |
| HPO |
HP:0003236 |
Elevated circulating creatine kinase concentration |
"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson] |
'has part' some \n('increased amount' and ('inheres in' some \n(IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) |
HP:0040081 |
| HPO |
HP:0000297 |
Facial hypotonia |
"Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] |
— |
HP:0000301, HP:0001252 |
| HPO |
HP:0006376 |
Limited elbow flexion |
— |
— |
HP:0002996 |
| HPO |
HP:0003701 |
Proximal muscle weakness |
"A lack of strength of the proximal muscles." [HPO:probinson] |
Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. |
HP:0001324 |
| HPO |
HP:0003557 |
Increased variability in muscle fiber diameter |
"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
This finding can be demonstrated by muscle biopsy. |
HP:0012084 |
| HPO |
HP:0002460 |
Distal muscle weakness |
"Reduced strength of the musculature of the distal extremities." [HPO:probinson] |
Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. |
HP:0001324 |
| HPO |
HP:0005085 |
Limited knee flexion/extension |
"A limited ability of the knee joint to perform extension and flexion." [HPO:curators] |
— |
HP:0010501 |
| HPO |
HP:0100297 |
Increased endomysial connective tissue |
"An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium." [PMID:32508678] |
— |
HP:0004303 |
| HPO |
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] |
— |
HP:0000005 |
| HPO |
HP:0002460 |
Distal muscle weakness |
"Reduced strength of the musculature of the distal extremities." [HPO:probinson] |
Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. |
HP:0001324 |
| HPO |
HP:0003438 |
Absent Achilles reflex |
"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson] |
— |
HP:0200101 |
| HPO |
HP:0003677 |
Slowly progressive |
"Applies to a disease manifestation that only slowly increases in scope or severity over the course of time." [] |
— |
HP:0003679 |
| HPO |
HP:0003236 |
Elevated circulating creatine kinase concentration |
"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson] |
'has part' some \n('increased amount' and ('inheres in' some \n(IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) |
HP:0040081 |
| HPO |
HP:0003701 |
Proximal muscle weakness |
"A lack of strength of the proximal muscles." [HPO:probinson] |
Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. |
HP:0001324 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
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] |
— |
HP:0001288 |
| HPO |
HP:0003674 |
Onset |
"The age group in which disease manifestations appear." [HPO:probinson] |
Adolescent is defined by WHO as a person between 10-19 years of age. |
HP:0031797 |
| HPO |
HP:0003722 |
Neck flexor weakness |
"Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] |
— |
HP:0000467 |
| HPO |
HP:0002515 |
Waddling gait |
"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207] |
— |
HP:0001288 |
| HPO |
HP:0007126 |
Proximal amyotrophy |
"Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:probinson] |
Proximal amyotrophy usually has a roughly symmetric distribution. |
HP:0003202 |
| HPO |
HP:0003198 |
Myopathy |
"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] |
The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. |
HP:0011805 |
| HPO |
HP:0001337 |
Tremor |
"An unintentional, oscillating to-and-fro muscle movement about a joint axis." [HPO:probinson, PMID:16344298, PMID:20589866] |
Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. |
HP:0004305 |