| 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:0002804 |
Arthrogryposis multiplex congenita |
"Multiple congenital contractures in different body areas." [HPO:probinson, PMID:23050160] |
Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. |
HP:0002803 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0000774 |
Narrow chest |
"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [HPO:probinson] |
— |
HP:0005257 |
| HPO |
HP:0001533 |
Slender build |
"Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:probinson] |
Slender, long-limbed habitus. |
HP:0000098, HP:0004325 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0001761 |
Pes cavus |
"The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, PMID:19125433] |
— |
HP:0001760 |
| HPO |
HP:0003306 |
Spinal rigidity |
"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [HPO:probinson, PMID:11601420, PMID:2246660] |
— |
HP:0000925 |
| HPO |
HP:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| HPO |
HP:0003690 |
Limb muscle weakness |
"Reduced strength and weakness of the muscles of the arms and legs." [HPO:sdoelken] |
— |
HP:0001324, HP:0009127 |
| HPO |
HP:0003798 |
Nemaline bodies |
"Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, PMID:11333380] |
This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with\nMGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). |
HP:0100303 |
| HPO |
HP:0008180 |
Mildly elevated creatine kinase |
— |
'has part' some \n('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal)) |
HP:0003236 |
| HPO |
HP:0001623 |
Breech presentation |
"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson] |
— |
HP:0001787 |
| 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:0009055 |
Generalized limb muscle atrophy |
"Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations." [HPO:probinson] |
— |
HP:0003700 |
| HPO |
HP:0009058 |
Increased muscle lipid content |
"An abnormal accumulation of lipids in skeletal muscle." [HPO:probinson, PMID:20691590] |
Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. |
HP:0004303 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| 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 |
| 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:0000467 |
Neck muscle weakness |
"Decreased strength of the neck musculature." [HPO:probinson] |
— |
HP:0001324 |
| HPO |
HP:0030192 |
Fatigable weakness of bulbar muscles |
"A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson, PMID:17986328, UNCL:mbertoli] |
— |
HP:0003473 |
| HPO |
HP:0002747 |
Respiratory insufficiency due to muscle weakness |
— |
— |
HP:0002093, HP:0004347 |
| HPO |
HP:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |
| HPO |
HP:0002068 |
Neuromuscular dysphagia |
— |
— |
HP:0002015 |
| 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 |