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Neuromuscular Illnesses
Professional in charge: Dr. Martín Nogués
The section of Neuromuscular and of Autonomic Nervous System diseases at FLENI has a medical team devoted to the diagnosis and treatment of muscle and peripheral nerve disorders, as well as those involving motoneurones of the spinal cord and the autonomic nervous system. It comprises medical neurologists trained at Centres of USA and Europe specialised in such diseases.
A close academic bond is maintained between FLENI and such Institutions.
The Neuromuscular Section interacts closely with the Laboratory of Pathological Anatomy at FLENI, where muscle and peripheral nerve biopsies are studied, and with the laboratory of Clinical Neurophysiology, involved in the performance of nervous conduction studies, electromyograms, the study of sensory thresholds and autonomic tests.
A. Neuromuscular diseases treated by this Section of FLENI include:
*1. Muscle diseases (myopathies)
*2. Neuromuscular junction diseases (myasthenia gravis, Lambert Eaton Syndrome, etc)
*3. Peripheral nerve diseases (mononeuropathies, polyneuropathies)
*4. Motoneurone disease (motoneurone diseases: amyotrophic lateral sclerosis,
syringomyelia, etc).
* 5. Autonomic nervous system diseases (syncope, postural tachycardia syndrome)
B. Studies
C. Complementary analysis
D. Treatments
E. Athenaeums
F. Referral conditions
G. Professionals
H. Contacts
1. Muscle diseases (myopathies)
· Muscular dystrophies: dystrofinopathies (dystrophy of Duchenne and Becker), facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, distal muscular dystrophies, myotonic dystrophy (Steinert's disease).
· Inflammatory myopathies: polymyositis, dermatomyositis, inclusion body myositis, eosinophilic myositis, trichinosis.
· Metabolic and toxic myopathies.
Diagnosis: They comprise an infrequent group of diseases, requiring experience and the availability of a battery of highly accurate complementary examinations. Clinical and electrophysiological diagnosis is carried out by means of comprehensive evaluation of the patient supplemented with a state-of-the-art electromyographic study that allows precise analysis of motor unit potentials.
At the same Institution the muscle biopsy procedure has been protocolised, in order to cause the least possible distress to the patient, as well as biopsy analysis, carried out by the Chief of the Department of Neuropathology, Dr. Ana Lía Taratuto, of international prestige in the field of histological muscle study.
Treatment: pharmacological treatment is monitored at the clinics of the Institution by the physicians belonging to the Section. There is interaction with the Service of Rehabilitation that provides attention at the Belgrano Centre and also at the Escobar Centre.
2. Neuromuscular junction disease Return
Myasthenia: this disease is due to a defect in the post-synaptic membrane of the neuromuscular junction. It includes the autoimmune or acquired variant, in which the presence of antibodies against the acetylcholine receptor can be demonstrated, congenital forms, and familial myasthenia. FLENI has a special interest in the diagnosis and treatment of this condition.
There has been close interaction with the Foundation of Comprehensive Help for the Myasthenic Patient (FAIAM), directed by Mrs. Zina Handley and Dr. Miguel Herrera. Dr. Miguel Herrera, former Director of the Hospital María Ferrer, is a consultant for Myasthenia at our Institution.
Diagnosis: physicians belonging to the Section have experience in clinical and electrophysiological diagnosis of this disease. They make the complementary examinations to confirm diagnosis, that include the Edrophonium test (Tensilon) and repetitive stimulation of the peripheral nerve. Furthermore, at FLENI single fibre electromyography is carried out, the most sensitive electrophysiological procedure to detect defects in neuromuscular transmission. This method was developed in Uppsala, Sweden, by Professor Erik Stalberg, and introduced to Argentina in 1988 by Dr. Martin Nogués, a disciple of Professor Stalberg. Dr. Alberto Rivero has worked in collaboration with FAIAM at the María Ferrer Hospital and has developed the method of extraocular muscle study by means of single fibre electromyography. Indeed, FLENI is one of the few centres world-wide where the specific study of these muscles is performed.
Treatment: The institution possesses the facilities to carry out conventional ambulatory treatments based on anticholinesterasic agents and corticoids, immunosuppression controlled by the Haematology Service at FLENI, and more specific treatments such as intravenous immunoglobuline and plasmapheresis. Besides, FLENI has facilities for thymectomy in such patients when required, and has at its disposal surgery rooms and intensive care units equipped for this type of surgery. Ambulatory treatments are performed with the help of piridostigmine, corticosteroids, immunosuppression and plasmapheresis. There is also experience in the diagnosis and treatment of congenital myasthenia, an infrequent entity, and in this pathology the institution is associated with the Mayo Clinic, of Rochester, USA.
Lambert-Eaton syndrome: in its autoimmune or primary variants, or secondary to neoplasias.
Botulism: comprehensive attention for the patient with severe respiratory involvement.
3. Peripheral nerve diseases Return
· Mononeuropathies: carpal tunnel syndrome, ulnar nerve entrapments, traumatic injuries to peripheral nerves and brachial plexus lesions. Multidisciplinary study with Electrophysiology, Magnetic Resonance, and comprehensive treatment with Rehabilitation, Orthopaedics and Hand Surgery.
Surgical treatments of the peripheral nerve that are carried out by the hand surgery team directed by Dr. Loda.
· Peripheral neuropathies: these are the most common cause of consultation at the Neuromuscular Section at FLENI. The study of these patients is indeed complex due to the long list of causes, while manifestations are similar in most cases. As they are also uncommon entities, experience is required in a large number of patients. The fact that FLENI is a specialised Institution means that the number of complex cases is relatively high, so that a considerable number of patients have concentrated in our section.
These disorders comprise: a) idiopathic inflammatory demyelinising neuropathies (Guillain-Barré syndrome and chronic inflammatory demyelinising polyradiculoneuropathy or CIDP in the English literature); b) metabolic neuropathies: diabetes, uremia, endocrine diseases, alcoholism, malnutrition; c) neuropathy of the critical patient; d) infectious: leprosy, Lyme's disease, herpes zoster, AIDS; e) sensory neuronopathies: idiopathic, associated to Sjogren's disease and to cancer; f) neuropathies associated to autoimmune disease: vasculitis, rheumatoid arthritis, lupus; g) toxic neuropathies: anticancerous drugs and immunosuppressors, antituberculous drug (isoniazide); h) heavy metal and industrial compound neuropathies; i) hereditary neuropathies: Charcot-Marie-Tooth disease and others; and j) idiopathic neuropathies.
Diagnosis: Neurological evaluation is supplemented by electromyography and nerve conduction studies by physicians belonging to the Section. There is also equipment for magnetic stimulation that allows stimulating deep nerves in a painless way, and equipment to quantify sensory loss (study of sensory thresholds), the only method that allows objective determination of the sensory deficit in "fine fibre" neuropathies. In most cases, these studies are supplemented by others from the main laboratory at the Institution: B12 vitamin and folic acid levels, dosage of antiGM1 (antiganglioside) and anti-MAG (myelin associated glycoprotein antibody), anti Hu antibodies (for the diagnosis of polyneuropathies associated to cancer). Finally, in the surgery rooms at FLENI, the sample for nerve biopsy is collected, carried out by surgeons having ample experience in this procedure.
Treatment: immunosuppression, plasmapheresis, intravenous immunoglobulin, bone marrow transplantation.
4. Motoneurone diseases Return
· Amyotrophic lateral sclerosis and its variants: Patrikios's syndrome or pseudopolyneuritic variant, primary lateral sclerosis and progressive bulbar paralysis. Spinal muscular atrophies: Werdnig-Hoffman disease (Department of Neuropaediatrics), Kugelberg-Wellander disease.
· Postpolio syndrome.
· Syringomyelia. FLENI has attended a series of 150 patients with this rare disease, and has a team of specialised neuroradiologists for its diagnosis, and of neurosurgeons with experience in its surgical treatment.
5. Autonomic nervous system diseases Return
Autonomic nervous system diseases may appear isolated as single disorders or in combination with many other illnesses like Parkinson's disease and diabetes, among others. Dysfunction of the autonomic system may give rise to:
· Orthostatic hypotension (drop in pressure after adopting the erect posture), manifested
by dizziness and a sensation of generalised weakness
· Syncope (fainting)
· Impairment in intestinal motility (constipation and diarrhoea)
· Bladder dysfunction (urinary incontinence or urinary retention)
· Sexual dysfunction (impotence in the male and sexual dysfunction in the female)
· Sweating alterations (excess or lack of perspiration)
· Abnormal control of body temperature
Patients with these pathologies are evaluated in the autonomic nervous system section as well as cases of orthostatic hypotension (isolated or associated to Shy-Drager syndrome, pure autonomic failure or Parkinson's disease), dysautonomias, familial dysautonomia or Riley-Day syndrome, palm and axillary hyperhydrosis.
Most of these disorders are of difficult diagnosis and treatment, requiring for their management a high specialisation level and a multidisciplinary team for the patient's comprehensive attention.
The professional team devoted to the diagnosis and treatment of these diseases also carry out clinical research and teaching for medical students and residents. Studies are performed by Dr. Aurora Ruiz who specialised in the field at the Autonomic Nervous System and Dr. Martin Nogués, who trained in this subject in England and in Sweden, and is member of the Editorial Board of the "Clinical Autonomic Research" Journal.
The working team includes haematologists, clinicians, diabetologists, neurosurgeons, urologists, cardiologists and pneumonologists of the institution or jointly with the attending physician who refers the patient.
B. Studies Return
Neurophysiological studies required for the diagnosis and follow-up of patients with neuromuscular diseases (studies of nervous conduction, electromyograms and autonomic tests) are carried out by members of this Section.
· Electromyography of motor and sensory nerve conduction studies.
· Sphincter electromyogram
· Evoked potential of the pudendal nerve
· Single fibre electromyogram studies
· Tensilon test
· Blink reflex study
· Evoked potentials (somatosensory, visual and auditory)
· Studies of evoked motor potentials by magnetic stimulation
· Tremor studies
· Study of autonomic cardiovascular reflexes
· Sympathetic skin response
· Tilt test, orthostatic hypotension treatment monitoring, vasovagal syncope
· Sweating Test.
C. Supplementary analysis Return
Laboratory of clinical analysis: Dosage of anti MAG, anti GM1 and ACRA antibodies, among others
Genetic studies for dystrophies
Laboratory of Pathological Anatomy: High complexity techniques for nerve and muscle biopsy, immunohistochemistry, electron microscopy
Dosage of plasma catecholamines during orthostatic stress
D. Treatments Return
· Immunosuppression (corticoids, cyclophosphamide, etc)
· Intravenous immunoglobulins (in- or out-patients)
· Botulinum Toxin
· Treatments for pain in neuropathies
E. MEETINGS of the Neuromuscular Diseases Section Return
Cases referred by institutional and external physicians are presented and discussed jointly with the entire team, with or without the patient's presence.
Tel. 5777-3200 extension 2302 2211 (so that physicians may attend with their patient).
F. Referral conditions Return
If possible, send a summary of the clinical history in advance.
Provide copies of study reports.
G. Professionals Return
Dr. Martin Nogués (Section Chief)
Dr. Ángel Cammarota
Dr. Alberto Rivero
Dra. Ana Pardal
Dra. Daniela Saadia
Dra. Marina Szlago (children)
H. Contacts Return
Dr. Martin Nogués mnogues@fleni.org.ar
Dr. Alberto Rivero arivero@fleni.org.ar
Dr. Ángel Cammarota acammarota@fleni.org.ar
Dr. Fabio Barroso fbarroso@fleni.org.ar
Fax: 5777-3209 Telephone: 5777-3200 int. 2211
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