| HPO |
HP:0001611 |
Nasal speech |
"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech." [HPO:sdoelken] |
May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. |
HP:0001608 |
| 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:0003693 |
Distal amyotrophy |
"Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). |
HP:0003202 |
| HPO |
HP:0009063 |
Progressive distal muscle weakness |
"Progressively reduced strength of the distal musculature." [HPO:curators] |
— |
HP:0002460 |
| 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:0003715 |
Myofibrillar myopathy |
"Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins." [HPO:probinson] |
This feature is demonstrated by muscle biopsy. |
HP:0003198 |
| HPO |
HP:0001284 |
Areflexia |
"Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). |
HP:0001315 |
| HPO |
HP:0002600 |
Hyporeflexia of lower limbs |
"Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson] |
Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. |
HP:0001265, HP:0002814 |
| HPO |
HP:0001638 |
Cardiomyopathy |
"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, PMID:17916581] |
— |
HP:0001637 |
| HPO |
HP:0003581 |
Adult onset |
"Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." [HPO:probinson] |
— |
HP:0003674 |
| 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: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:0001771 |
Achilles tendon contracture |
"A contracture of the Achilles tendon." [HPO:probinson] |
— |
HP:0005109, HP:0008366 |
| HPO |
HP:0003326 |
Myalgia |
"Pain in muscle." [HPO:probinson] |
— |
HP:0012531 |
| HPO |
HP:0100303 |
Muscle fiber cytoplasmatic inclusion bodies |
"The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." [HPO:probinson] |
— |
HP:0100299 |
| HPO |
HP:0001271 |
Polyneuropathy |
"A generalized disorder of peripheral nerves." [HPO:curators] |
— |
HP:0009830 |
| HPO |
HP:0003552 |
Muscle stiffness |
"A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [HPO:probinson] |
— |
HP:0011804 |
| OMIM |
OMIM:609200 |
MYOPATHY, MYOFIBRILLAR, 3; MFM3 |
— |
— |
— |
| OMIM |
OMIM:159000 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A |
— |
— |
— |
| OMIM |
OMIM:182920 |
MYOPATHY, SPHEROID BODY |
— |
— |
— |