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Proximal muscle weakness is a sign of proximal myopathy, a muscle disease that causes weakness in the upper and/or lower limbs. It can also affect the muscles in the neck, face, distal limb, eye, pharynx, respiratory system, and heart. Proximal myopathy can be caused by a variety of factors, including long-term statin use, endocrine disorders, viral infections, and inflammatory conditions. It is often associated with other conditions such as acute flaccid myelitis (AFM) and can be a side effect of certain drugs, alcohol consumption, or vaccinations. Proximal muscle weakness can manifest as difficulty in performing daily activities, such as standing, walking, or raising the arms above the head. It can also lead to breathlessness and trunk weakness.
| Characteristics | Values |
|---|---|
| Definition | Proximal myopathy is a muscle disease unrelated to any disorder of innervation or neuromuscular junction. |
| Causes | Viral causes (HIV, dengue virus, influenza virus, hepatitis B and C, SARS-CoV-2), endocrine and metabolic disorders, toxins, long-term use of statins, corticosteroids, alcohol, SGLT2 inhibitors, COVID-19 vaccination, antimalarials, genetic defects, etc. |
| Symptoms | Generalized muscle weakness commonly involving the muscles of upper and/or lower limbs, muscle pain, impaired function in activities of daily life, breathlessness, abnormal curvature of the spine, etc. |
| Diagnosis | Creatine kinase, thyroid function, and (25)OH vitamin D levels. Further evaluation includes neurophysiological studies, muscle imaging, and muscle biopsy. |
| Treatment | Supportive care, establishing ABCs (airway, breathing, circulation), and attention to airway and aspiration precautions. |
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What You'll Learn
Proximal myopathy and its causes
Proximal myopathy is a condition characterised by generalised muscle weakness commonly involving the muscles of the upper and/or lower limbs. It can also affect the muscles of the neck, face, distal limb, eye, pharynx, respiratory system, and heart. The condition can cause significant disruption to everyday life, with patients experiencing pain and difficulty in performing basic movements.
Proximal myopathy can be caused by a variety of factors, including toxins, long-term use of medications such as statins and corticosteroids, alcohol consumption, certain vaccinations, and antimalarials. It is also associated with endocrine and metabolic disorders, particularly adrenal dysfunction, and parathyroid, thyroid, and pituitary gland disorders.
In terms of inflammatory myopathies, proximal myopathy is observed in conditions such as polymyositis, dermatomyositis, inclusion body myositis (IBM), and Systemic Lupus Erythematosus (SLE). IBM is the most prevalent acquired myopathy in individuals over the age of 50. Hereditary or congenital myopathies, such as limb girdle muscular dystrophies, facioscapulohumeral muscular dystrophy, and Duchenne and Becker muscular dystrophy, can also lead to proximal myopathy.
Viral infections, including HIV, dengue virus, influenza virus, hepatitis B and C, and SARS-CoV-2, are associated with muscle weakness and can contribute to the development of proximal myopathy. Sarcoidosis, an inflammatory disease, can also manifest as muscle weakness and myalgia.
Additionally, proximal myopathy can be a side effect of certain medications, such as colchicine, which is used to treat gout and cardiovascular diseases. This is known as colchicine-induced myopathy and often occurs in patients with digestive discomfort, bone marrow suppression, liver dysfunction, or renal dysfunction.
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Acute flaccid myelitis (AFM)
Proximal muscle weakness can be a symptom of acute flaccid myelitis (AFM). AFM is a rare but serious neurological condition that affects the spinal cord, specifically the area of the spinal cord called grey matter. It causes muscle weakness and loss of reflexes, and in some cases, it can lead to permanent paralysis. The condition mostly affects young children, and outbreaks tend to occur between August and November.
The initial clinical presentation of AFM can vary widely and may resemble other neurological conditions. However, the discovery of proximal muscle weakness can help clinicians suspect AFM. When examining patients with sudden limb, neck, or trunk weakness, it is important to assess the patient's ability to move their head, shoulders, knees, and toes. For example, patients with hip muscle weakness might not be able to lift their leg on the affected side, and patients with weakness on one side of the shoulder girdle may have difficulty raising their arm above their head.
AFM can be caused by an infection with a type of virus known as an enterovirus, which causes respiratory illnesses and fever, especially in children. However, it is unclear why some people with an enterovirus infection develop AFM. In addition to enteroviruses, AFM can also be caused by other viruses, including flaviviruses (such as West Nile virus and Japanese encephalitis virus), herpesviruses, and adenoviruses.
Currently, there is no specific treatment for AFM. However, clinicians may recommend different interventions on a case-by-case basis, such as physical or occupational therapy to help with arm or leg weakness. Physical rehabilitation initiated during the initial phase of the illness may improve long-term outcomes.
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Myopathies and their types
Proximal muscle weakness can be a sign of acute flaccid myelitis (AFM), an uncommon but serious neurological condition that sometimes leads to permanent paralysis. It can also be a symptom of proximal myopathy, which is a well-known side effect of long-term statin use.
Myopathies are a class of diseases that attack skeletal muscles, making them weak by targeting the muscle fibres. They can be inherited or acquired and often cause difficulty in performing everyday tasks. The word 'myopathy' is derived from the Greek words 'myo', meaning muscle, and 'pathos', meaning disease.
Types of Myopathies
Myopathies can be broadly categorised into two types: hereditary and acquired. Hereditary myopathies are inherited from an immediate family member and can be further classified into congenital myopathies and mitochondrial myopathies. Congenital myopathies are present at birth and caused by genetic abnormalities in the genes responsible for proper muscle development. They often involve developmental delays in learning motor skills such as crawling or walking. Mitochondrial myopathies, on the other hand, are caused by mutations in the mitochondria, the energy-producing parts of the body's cells. These can cause problems not only with muscles but also with the heart, brain, or gastrointestinal tract.
Acquired myopathies, on the other hand, are not present at birth but are acquired later in life. These include inflammatory myopathies, endocrine myopathies, toxic myopathies, infectious myopathies, and critical illness myopathies. Inflammatory myopathies are characterised by inflammation of the muscles and are more common in middle-aged women. Endocrine myopathies are caused by issues with the endocrine system, which controls hormone production, and can be influenced by thyroid or adrenal diseases. Toxic myopathies are caused by toxins, such as alcohol, and certain medications. Infectious myopathies are acquired through viral, bacterial, parasitic, or fungal infections. Lastly, critical illness myopathies develop due to long periods of immobility, often in intensive care units, and affect the muscles used for breathing.
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Signs and symptoms of proximal muscle weakness
Proximal myopathy is a condition that causes generalized muscle weakness, commonly affecting the muscles of the upper and/or lower limbs. It can be caused by various factors, including long-term statin use, viral infections, endocrine disorders, and genetic factors.
- Patients may experience difficulty in lifting their legs, with their toes unable to clear the ground. They might also have trunk weakness and struggle to stand without assistance.
- Proximal muscle weakness can be a sign of acute flaccid myelitis (AFM), a rare but severe neurological condition that sometimes leads to permanent paralysis.
- In children, proximal muscle weakness can manifest as a sudden inability to use the head, shoulders, knees, and toes.
- Patients with weakness on one side of the shoulder girdle may have difficulty raising their arm above their head.
- In hereditary disorders, such as limb girdle muscular dystrophies (LGMDs), facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy, proximal muscle weakness can be a prominent symptom.
- Viral infections, including HIV, dengue, influenza, hepatitis B, hepatitis C, and SARS-CoV-2, can cause proximal muscle weakness.
- Endocrine disorders, such as adrenal dysfunction and thyroid disorders, can contribute to proximal myopathy and muscle weakness.
- Long-term use of medications like steroids, corticosteroids, and statins can lead to proximal myopathy and muscle weakness.
- Inflammatory myopathies, such as polymyositis, dermatomyositis, and inclusion body myositis, often present with moderate to severe proximal muscle weakness.
- Toxins, alcohol consumption, SGLT2 inhibitors, COVID-19 vaccination, and antimalarials have been linked to the development of proximal myopathy and associated muscle weakness.
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Diagnosis and treatment of proximal muscle weakness
Proximal muscle weakness is a symptom of acute flaccid myelitis (AFM), a rare but serious neurological condition that can sometimes lead to permanent paralysis. The initial clinical presentation of AFM can vary widely and may resemble other neurological conditions. Therefore, a thorough history, full physical exam, and neurodiagnostic studies are required to make an accurate diagnosis. During the physical examination, clinicians should assess both sides of the body for comparison and document both proximal and distal muscle strength, tone, and reflexes.
When examining patients with sudden limb, neck, or trunk weakness, clinicians should pay attention to the patient's ability to move their head, shoulders, knees, and toes. Patients with proximal muscle weakness may experience difficulty rising from chairs, getting out of the bathtub, climbing stairs, or performing tasks that require fine motor skills, such as shaving or combing their hair. In children, proximal muscle weakness may present as a refusal to use an affected limb.
To determine the underlying cause of proximal muscle weakness, clinicians may employ various diagnostic tools, including serologic testing, electromyography, muscle biopsy, and genetic testing. The treatment approach will depend on the specific cause or diagnosis. For inherited myopathies, management is typically supportive, including physical therapy, occupational therapy, contracture management, nutrition, and genetic counselling. In the case of acquired myopathies, treatment is targeted toward addressing the underlying cause. For example, the treatment of statin-induced myopathies involves adjusting the dosage or type of statin based on creatine phosphokinase levels and the severity of muscle symptoms.
In some cases, myopathies may be caused by endocrine and metabolic disorders, such as adrenal dysfunction, parathyroid and thyroid disorders, or pituitary gland disorders. Inflammatory myopathies, including polymyositis, dermatomyositis, inclusion body myositis, and systemic lupus erythematosus, can also lead to proximal muscle weakness. Viral infections, such as HIV, dengue virus, influenza virus, and SARS-CoV-2, have also been associated with muscle weakness.
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Frequently asked questions
Proximal muscle weakness is a symptom of acute flaccid myelitis (AFM), a rare but serious neurological condition that can sometimes lead to permanent paralysis.
The symptoms of proximal muscle weakness include weakness in the legs, hips, and shoulders, as well as muscle pain, tenderness, and fatigue. In children, proximal muscle weakness may manifest as a refusal to use an affected limb.
Proximal muscle weakness can be caused by a variety of factors, including viral infections, endocrine disorders, inflammatory diseases, and long-term use of certain medications such as statins.
The diagnosis of proximal muscle weakness involves a comprehensive evaluation, including a thorough medical history, a physical examination, and neurodiagnostic studies. Initial tests may include creatine kinase, thyroid function, and vitamin D level assessments.
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