| HPO |
HP:0002747 |
Respiratory insufficiency due to muscle weakness |
— |
— |
HP:0002093, HP:0004347 |
| HPO |
HP:0003391 |
Gowers sign |
"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] |
— |
HP:0003701 |
| HPO |
HP:0002205 |
Recurrent respiratory infections |
"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] |
— |
HP:0002719, HP:0011947 |
| HPO |
HP:0002398 |
Degeneration of anterior horn cells |
— |
— |
HP:0006802, HP:0007373 |
| 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 |
| HPO |
HP:0007269 |
Spinal muscular atrophy |
"Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:probinson] |
— |
HP:0003202 |
| HPO |
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0001308 |
Tongue fasciculations |
"Fasciculations or fibrillation affecting the tongue muscle." [HPO:probinson] |
— |
HP:0002380, HP:0010546, HP:0030810 |
| HPO |
HP:0008955 |
Progressive distal muscular atrophy |
"Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
— |
HP:0003693 |
| HPO |
HP:0002123 |
Generalized myoclonic seizure |
"A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO:jalbers, PMID:28276060, PMID:28276064] |
— |
HP:0032677, HP:0032794 |
| HPO |
HP:0001336 |
Myoclonus |
"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:probinson, PMID:20589866] |
Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. |
HP:0004305 |
| 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:0001249 |
Intellectual disability |
"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] |
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). |
HP:0011446, HP:0012759 |
| HPO |
HP:0032667 |
Myoclonic status epilepticus |
"A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography." [ORCID:0000-0002-1735-8178, PMID:26336950] |
The myoclonic seizures are usually generalized. The duration or frequency of myoclonic jerks required to qualify as myoclonic status is not defined, but they should occur frequently and long enough to significantly impair functioning. A reasonable general definition might be that myoclonus must occur either (1) at least once every 10 seconds for longer than 10 minutes or (2) at least once a minute for longer than 30 minutes. |
HP:0032658 |
| HPO |
HP:0001757 |
High-frequency sensorineural hearing impairment |
"A form of sensorineural hearing impairment that affects primarily the higher frequencies." [HPO:probinson] |
— |
HP:0000407 |
| HPO |
HP:0011147 |
Typical absence seizure |
"A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event." [HPO:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] |
In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. |
HP:0002121 |
| HPO |
HP:0002366 |
Abnormal lower motor neuron morphology |
"Any structural anomaly of the lower motor neuron." [HPO:probinson] |
previous def: 'has part' some \n(quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal)) |
HP:0000759, HP:0002450 |
| HPO |
HP:0007340 |
Lower limb muscle weakness |
"Weakness of the muscles of the legs." [HPO:curators] |
Inability to perform rapid, alternating movements. |
HP:0003690 |
| HPO |
HP:0012379 |
Abnormal enzyme/coenzyme activity |
"An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme." [HPO:probinson, MP:0005584] |
— |
HP:0001939 |
| HPO |
HP:0002123 |
Generalized myoclonic seizure |
"A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO:jalbers, PMID:28276060, PMID:28276064] |
— |
HP:0032677, HP:0032794 |
| HPO |
HP:0002359 |
Frequent falls |
— |
— |
HP:0002311, HP:0004302 |
| HPO |
HP:0002312 |
Clumsiness |
"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [HPO:probinson] |
— |
HP:0002311 |
| HPO |
HP:0002355 |
Difficulty walking |
"Reduced ability to walk (ambulate)." [HPO:probinson] |
— |
HP:0001288, HP:0004302 |
| HPO |
HP:0000708 |
Behavioral abnormality |
"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson] |
— |
HP:0012638 |
| HPO |
HP:0001268 |
Mental deterioration |
"Loss of previously present mental abilities, generally in adults." [HPO:probinson] |
— |
HP:0100543 |