Neuromuscular disorders are akin to diseases that can potentially involve any structure of the peripheral nervous system. These include the motor nerve cells of the spinal cord, or “motoneurons”, the roots and nerves of the limbs, the junction between the nerve and the muscle and/or the muscle itself.

Neuromuscular disorders are extremely diverse in their presentation, the age at which they occur, their severity and their development, as well as the way in which they are treated. For instance, they may involve the sensitivity or motility of the limbs, face and sometimes other organs, or muscular function (eye and speech movements, swallowing, breathing, heartbeat). Its manifestations include loss of strength associated with an inability to control the muscles or muscle atrophy. This may result in difficulties in walking or in using the arms and hands. Similarly, pain in the feet, hands or muscular cramps may be an indication of a peripheral nerve disorder, whether it occurs when the patient is resting or tends to appear during exertion. Difficulties with balance or abnormal sensations, such as adenopathy or formication, may also occur.

When other muscles in the body are involved, the illness may manifest itself through double vision, drooping eyelids and difficulties in speaking, swallowing and even breathing. These symptoms may be transitory, permanent or intermittent, depending on the disorder concerned.

Certain muscular disorders have a genetic origin (myopathy). Some are due to an immune malfunction, causing a lesion in the nerves (dysimmune neuropathy), in the neuro-muscular junction (myasthenia) or muscle inflammation (myositis). There are a multitude of other reasons for such conditions, including, but not limited to the following: toxicity linked to medication, vitamin deficiency, metabolic diseases, infections, etc.

Diagnosis is based on a detailed medical history, established in consultation with the patient, as well as a targeted neurological examination, in order to pinpoint the diagnosis and decide which additional examinations are required (blood tests, ENMG, CT or MRI scans, possible nerve and/or muscle biopsies).

Specialist advice and suitable treatment may then be offered, depending upon the disorder identified.