Adult examination myopathy onset patient

Myopathies are a heterogeneous group of disorders that can be challenging to diagnose. The purpose of this review is to provide a diagnostic approach based predominantly upon the clinical history and neurologic examination. Laboratory testing that can be subsequently used to confirm the suspected diagnosis based upon this pattern recognition approach will also be discussed. Over the past decade, there have been numerous discoveries allowing clinicians to diagnose myopathies with genetic testing.

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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

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If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. The term myopathy refers to a muscle fiberdisorder that can have a variety of etiologies. Myopathies present as pure motor syndromes without any disturbance of sensory or autonomic function. Deep tendon reflexes are usually preserved. In most myopathies, symptoms tend to be bilateral and affect proximal muscles preferentially, although there are exceptions. The final section of this chapter outlines strategies that are often used in rehabilitation of patients with myopathies.
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Evaluation of the Patient with Muscle Weakness

Distal myopathy or distal muscular dystrophy is a general term for a group of rare progressive genetic disorders characterized by wasting atrophy and weakness of the voluntary distal muscles. The distal muscles are those farther from the center of the body and include the muscles of the lower arms and legs and the hands and feet. Conversely, the proximal muscles are the muscles closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. Although age of onset can occur anytime from infancy to adulthood, most forms develop later in life and are slowly progressive.
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The online-only version of this article offers more detailed information on additional selected causes of muscle weakness. Muscle weakness is a common complaint among patients presenting to family physicians. Diagnosis begins with a patient history distinguishing weakness from fatigue or asthenia, separate conditions with different etiologies that can coexist with, or be confused for, weakness. If a specific cause of weakness is suspected, the appropriate laboratory or radiologic studies should be performed. Otherwise, electromyography is indicated to confirm the presence of a myopathy or to evaluate for a neuropathy or a disease of the neuromuscular junction.
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