Neuromuscular Disease Unit

Evaluation of the patient with a possible neuromuscular disease

Since the symptoms described above may be due to different neurological diseases, an initial evaluation by a neurologist specialized in neuromuscular diseases through a thorough history and neurological examination is necessary.

Diagnostic tests such as laboratory tests, neurophysiological studies (nerve conduction studies and electromyography), magnetic resonance imaging (MRI of the central nervous system, nerve plexus or muscles), muscle or nerve biopsy, or genetic studies may then be necessary.

Once the diagnosis is established, an individualized treatment plan is indicated, which may include pharmacological treatments and rehabilitation treatment in coordination with the Neuro-rehabilitation Unit, and the need for follow-up to evaluate the evolution and response to treatment.

We have special expertise in the evaluation of complex or difficult to diagnose cases including second opinions.

• Nerve conduction studies (also known as electroneurography) are diagnostic tests that evaluate the degree of activation and electrical conduction of peripheral nerves. These studies help to determine if there is a lesion in one or more peripheral nerves.
• Nerve conduction studies only allow evaluation of nerves accessible to electrical stimulation and do not adequately evaluate smaller or finer nerve fibers.
• The procedure consists of electrically stimulating peripheral nerves at different points along their pathway (using stimulation electrodes on the skin) and recording the resulting response in the skin or muscle (using recording electrodes that are usually attached to the skin).
• After the test is performed, a personalized report will be issued and, if required, the referring physician will be contacted. At all times, the Neurology Department secretary, by telephone or in person, will schedule and coordinate any necessary complementary tests or other appointments.

Repetitive nerve stimulation

• Repetitive nerve stimulation is a type of nerve conduction study in which a nerve is repeatedly stimulated and the resulting response in a muscle is recorded. This test can help determine if there is a dysfunction of the neuromuscular junction.
• After the test is performed, a personalized report will be issued and, if required, the referring physician will be contacted. At all times, the Neurology Department secretary, by telephone or in person, will schedule and coordinate any necessary complementary tests or other appointments.

• Electromyography is a diagnostic test to evaluate the degree of spontaneous activity and voluntary activation of muscles. This test can help determine whether there is a lesion of motor neurons, nerve roots, peripheral nerves or muscles.
• The procedure consists of inserting a needle into the muscle or muscles to be studied and then recording its electrical activity both at rest and during different degrees of voluntary contraction.
• After the test is performed, a personalized report will be issued and, if required, the referring physician will be contacted. At all times, the Neurology Department secretary, by telephone or in person, will schedule and coordinate any necessary complementary tests or other appointments.

• Isolated fiber electromyography is a type of electromyography in which a fine needle inserted into a muscle is used to record the activation of an individual muscle fiber. This test can be performed by voluntary muscle contraction or by electrical stimulation (usually with two subcutaneous electrodes). This test can help determine if neuromuscular junction dysfunction is present.
• The study is performed on an outpatient basis. After the test is performed, a personalized report is issued and, if required, a communication with the referring physician will be made. At all times, the Neurology Department secretary, by telephone or in person, will schedule and coordinate any necessary complementary tests or other appointments.

The autonomic nervous system transmits signals from the central nervous system (brain and spinal cord) to the rest of the body, and is involved in the unconscious regulation of multiple bodily functions including heart rate, blood pressure, breathing, digestion, urination and sweating.

The function of the autonomic nervous system can be altered in various neurological diseases (e.g. peripheral neuropathies or parkinsonisms) or systemic diseases (e.g. diabetes mellitus or amyloidosis). The function of the autonomic nervous system can be studied by different tests which, when altered, help to identify the focus and type of autonomic dysfunction.

These include tests that assess cardiovascular function (e.g. orthostasis tests, heart rate variability or Valsalva maneuver), cardiac scintigraphy with 123I-MIBG, sudomotor function tests (e.g. cutaneous sympathetic response or Sudoscan®), and urinary and gastrointestinal function tests.