From HPO
Scapular winging- MedGen UID:
- 66822
- •Concept ID:
- C0240953
- •
- Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Limb-girdle muscular dystrophy- MedGen UID:
- 151940
- •Concept ID:
- C0686353
- •
- Disease or Syndrome
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.\n\nThe severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.\n\nIn the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.\n\nMuscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.\n\nWeakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).\n\nIntelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.
Loss of ambulation- MedGen UID:
- 332305
- •Concept ID:
- C1836843
- •
- Finding
Inability to walk in a person who previous had the ability to walk.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Proximal muscle weakness in lower limbs- MedGen UID:
- 356423
- •Concept ID:
- C1866010
- •
- Finding
A lack of strength of the proximal muscles of the legs.
Fatty replacement of skeletal muscle- MedGen UID:
- 866735
- •Concept ID:
- C4021082
- •
- Finding
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Airway obstruction- MedGen UID:
- 1387
- •Concept ID:
- C0001883
- •
- Disease or Syndrome
Obstruction of conducting airways of the lung.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Reduced forced vital capacity- MedGen UID:
- 337630
- •Concept ID:
- C1846678
- •
- Finding
An abnormal reduction in the amount of air a person can expel following maximal inspiration.
Restrictive ventilatory defect- MedGen UID:
- 478856
- •Concept ID:
- C3277226
- •
- Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Reduced FEV1/FVC ratio- MedGen UID:
- 898646
- •Concept ID:
- C4280729
- •
- Finding
Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).
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.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system