Symptoms of Muscular Diseases or Myopathies

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Person with muscular weakness in arms and no energy

Muscle weakness. This usually occurs in hereditary myopathies, but can also occur in many acquired myopathies. Muscle weakness is symmetrical, that is, it occurs in both extremities, or both arms or both legs. Most myopathies present proximal muscle weakness (closer to the central part of the body) such as the arms and thighs, both in acquired or hereditary forms, such as Pompe disease, waist dystrophies, dermatomyositis, etc. 

Distal muscular weakness (furthest from the central part of the body), such as in the forearms, hands, and legs, is characteristic of distal myopathies, as well as inclusion body myositis in its sporadic form, myofibrillary myopathies, and myotonic dystrophy type 1 (DM1) or Steinert's disease, among others. 

Axial muscle weakness affects the flexor muscles of the neck (dropped head) and can even involve a curved trunk (bent spine syndrome). 

The muscles of the face may also be affected, with drooping of the eyelids, difficulty closing the eyes completely, or problems blowing. Other frequently affected muscles are those involved in the ventilatory mechanics, such as the diaphragm and intercostal muscles. Swallowing problems may also be associated with this as the pharyngeal muscles may become involved in both inherited and acquired myopathies. 

Low back pain

Muscle pain (myalgia) and muscle cramps. These are a common symptom, but rarely occur in isolation in the context of a muscle disease. Muscle cramps may occur in healthy people after muscle exhaustion, but in some cases this may indicate a neuromuscular disease, such as a motor neurone disorder, Duchenne muscular dystrophy (DMD), and certain metabolic muscle diseases. 

Person with problems exercising due to leg pain

Exercise intolerance. Exercise intolerance is associated with muscle metabolic diseases. It results in an inability to perform physical activity appropriate to the patient’s age and physical condition. 

These symptoms are not mutually exclusive, and can occur from birth, in childhood, or in adulthood. 

Another reason a large number of patients consult their doctor is:

Person getting up from a chair and having back pain

Massive muscle breakdown (iterative rhabdomyolysis). Rhabdomyolysis is a serious syndrome that results from the massive breakdown of muscle cells that then release their intracellular contents into the bloodstream. As a result, there is a rise in muscle enzymes, myalgia, muscle weakness, and eventual kidney failure.

An isolated episode may have various causes, including strenuous exercise, alcohol or drug abuse, medication, viral infections, traumatic injuries, and seizures. When episodes of rhabdomyolysis are repeated, or there is a family history of this disease, genetic causes or defects must be excluded. The most common causes of iterative rhabdomyolysis are glycogenesis, for example, McArdle's disease, lipid metabolism disorders, and mitochondrial diseases.

Blood test tube with upward pointing arrow

Asymptomatic hyperCKaemia consists of a more or less marked elevation of blood creatinine kinase (CK) values. The big difference with the previous section is that these patients are generally asymptomatic.

Substantiated information by:

Jose César Milisenda
Josep M. Grau Junyent
Sergio Prieto González

Published: 18 November 2020
Updated: 18 November 2020

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