| HPO |
HP:0001260 |
Dysarthria |
"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
— |
HP:0002167 |
| HPO |
HP:0009063 |
Progressive distal muscle weakness |
"Progressively reduced strength of the distal musculature." [HPO:curators] |
— |
HP:0002460 |
| 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:0002828 |
Multiple joint contractures |
— |
— |
HP:0001371 |
| 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:0003458 |
EMG: myopathic abnormalities |
"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
— |
HP:0003198, HP:0003457 |
| HPO |
HP:0030226 |
Abnormal muscle fiber myotilin |
"A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein." [Neuromics:vstraub] |
— |
HP:0030089 |
| HPO |
HP:0002355 |
Difficulty walking |
"Reduced ability to walk (ambulate)." [HPO:probinson] |
— |
HP:0001288, HP:0004302 |
| HPO |
HP:0009073 |
Progressive proximal muscle weakness |
"Lack of strength of the proximal muscles that becomes progressively more severe." [HPO:probinson] |
Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. |
HP:0003323, HP:0003701 |
| HPO |
HP:0001265 |
Hyporeflexia |
"Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
— |
HP:0001315 |
| HPO |
HP:0009830 |
Peripheral neuropathy |
"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:sdoelken] |
Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. |
HP:0012638 |
| 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:0003552 |
Muscle stiffness |
"A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [HPO:probinson] |
— |
HP:0011804 |
| 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:0006794 |
Loss of ability to walk in first decade |
— |
— |
HP:0002505 |
| HPO |
HP:0003458 |
EMG: myopathic abnormalities |
"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
— |
HP:0003198, HP:0003457 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0002878 |
Respiratory failure |
"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson] |
Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). |
HP:0002093 |
| HPO |
HP:0012515 |
Hip flexor weakness |
"Reduced ability to flex the femur, that is, to pull the knee upward." [ORCID:0000-0001-5208-3432] |
Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. |
HP:0003749 |
| HPO |
HP:0012548 |
Fatty replacement of skeletal muscle |
"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" [HPO:probinson, Neuromics:vstraub] |
Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. |
HP:0011805 |
| HPO |
HP:0003698 |
Difficulty standing |
— |
— |
HP:0004302 |
| HPO |
HP:0009027 |
Foot dorsiflexor weakness |
"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles." [HPO:probinson] |
Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. |
HP:0003690 |
| HPO |
HP:0003551 |
Difficulty climbing stairs |
"Reduced ability to climb stairs." [HPO:probinson] |
— |
HP:0004302 |
| HPO |
HP:0002540 |
Inability to walk |
"Incapability to ambulate." [HPO:probinson] |
— |
HP:0001288 |
| HPO |
HP:0002792 |
Reduced vital capacity |
"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [HPO:probinson] |
— |
HP:0030878 |