From HPO
Shoulder girdle muscle weakness- MedGen UID:
- 96533
- •Concept ID:
- C0427063
- •
- Finding
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.
Pelvic girdle muscle weakness- MedGen UID:
- 96534
- •Concept ID:
- C0427064
- •
- Finding
Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
Absent Achilles reflex- MedGen UID:
- 108240
- •Concept ID:
- C0558845
- •
- Finding
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.
Lower limb muscle weakness- MedGen UID:
- 324478
- •Concept ID:
- C1836296
- •
- Finding
Weakness of the muscles of the legs.
Decreased Achilles reflex- MedGen UID:
- 324765
- •Concept ID:
- C1837323
- •
- Finding
Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Limb-girdle muscle weakness- MedGen UID:
- 347625
- •Concept ID:
- C1858127
- •
- Finding
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.
Foot dorsiflexor weakness- MedGen UID:
- 356163
- •Concept ID:
- C1866141
- •
- Finding
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.
Hypertrophic cardiomyopathy- MedGen UID:
- 2881
- •Concept ID:
- C0007194
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Fasciculations- MedGen UID:
- 5124
- •Concept ID:
- C0015644
- •
- Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Muscular dystrophy- MedGen UID:
- 44527
- •Concept ID:
- C0026850
- •
- Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Neck muscle weakness- MedGen UID:
- 66808
- •Concept ID:
- C0240479
- •
- Finding
Decreased strength of the neck musculature.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Quadriceps muscle weakness- MedGen UID:
- 154367
- •Concept ID:
- C0577655
- •
- Sign or Symptom
Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).
Muscle fiber splitting- MedGen UID:
- 322813
- •Concept ID:
- C1836057
- •
- Finding
Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
EMG: myopathic abnormalities- MedGen UID:
- 867362
- •Concept ID:
- C4021726
- •
- Pathologic Function
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Leg muscle stiffness- MedGen UID:
- 870176
- •Concept ID:
- C4024610
- •
- Sign or Symptom
Late-onset proximal muscle weakness- MedGen UID:
- 871110
- •Concept ID:
- C4025578
- •
- Finding
Lack of strength of the proximal musculature occurring late in the clinical course.
Skeletal muscle autophagosome accumulation- MedGen UID:
- 1814214
- •Concept ID:
- C5676640
- •
- Finding
Abnormal accumulation of autophagosomes in skeletal muscle tissue.
Orthopnea- MedGen UID:
- 508348
- •Concept ID:
- C0085619
- •
- Finding
A sensation of breathlessness in the recumbent position, relieved by sitting or standing.
Paradoxical respiration- MedGen UID:
- 534076
- •Concept ID:
- C0231852
- •
- Sign or Symptom
Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.
Respiratory insufficiency due to muscle weakness- MedGen UID:
- 812797
- •Concept ID:
- C3806467
- •
- Finding
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Scleroderma- MedGen UID:
- 3770
- •Concept ID:
- C0011644
- •
- Disease or Syndrome
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system