Richard Hughes concept of “Pathological Similimum in a rare McArdle disease

KEYWORDS: McArdle disease, Pathological Similimum, Richard Hughes, Rare disease conditions.

Introduction:

As a Homoeopath Richard Hughes naturally placed the similia principle at top most priority always, but his attitude to it was relaxed and non-dogmatic. It was, he said, not a law of nature as Samuel Hahnemann claimed but simply a rule of thumb a skeleton which has to be analyzed and evaluated further to know the exact meaning of it, it’s just like a tip of ice berg which has to be deeply understood further, he always says that it often gave the right answer but not invariably, nor was it the only key worth trying¹.

Richard Hughes believed, moreover, that if you are serious about the similia idea you must take pathology into account. It was all very well for Samuel Hahnemann during his times to say that nothing could be known about the mechanism of disease as medical field was not that improved and based on the literature explained by him it’s so obvious that it was basically a cruel practice² which was done during his times and death of the patient was not because of disease instead was death was because of the treatment but in his day that might have been true, but times had changed and quite a lot was now known about pathology and the new knowledge needed to be incorporated into homoeopathy.

Richard Hughes believed that medicines should be selected just on subjective symptoms they produced but on the basis of their known pathological effects on human beings and even he said that it has to be even tried on animals in order to learn the pathological aspect of each drug. For example, if your patient is suffering from fever, you should choose a medicine known to produce fever, and so on³.

He brought the concept of giving more importance to pathology & his major aim was to get the scientific background to system of Homoeopathy as he was well known as “pathological prescriber”.

The same concept is being used here in this article as well, the pathological background of the disease as well as drug is compared and a scientific background is explained throughout the article. Here in this literature, we have tried go explain the pathological aspect of McArdle’s disease and a specific remedy for it in Homoeopathy based on Hughes concept⁴.

McArdle’s disease:

The myopathies (muscular diseases) are primary skeletal muscle disorders in which the primary symptom is muscle weakness. Myopathies are divided into 5 broad groups: hereditary (muscular dystrophies), inflammatory, endocrine, metabolic and toxic myopathies.

Myopathies are grouped as follows⁵:

Inherited myopathies

Dystrophies, X-linked, Autosomal dominant, Autosomal recessive, Myotonias, Congenital myopathies, Distal myopathies, Metabolic myopathies, Glycogen storage disease, Lipid storage disease, Mitochondrial cytopathies. Channelopathies: Sodium: Hyperkalemic periodic paralysis, Calcium: Malignant hyperthermia, Potassium: Anderson’s disease & Chloride: Myotonia congenita

Acquired myopathies

Infective, Inflammatory myopathies: polymyositis, dermatomyositis, Endocrine myopathies: thyroid, parathyroid, Toxic: statins, corticosteroids, amphophilic compounds like chloroquine, HCQ, amiodarone⁶,

Metabolic myopathies:

Metabolic myopathies are genetic skeletal muscle disorders where there is impairment in the muscle metabolism due to errors in glycogenolysis or glycogen storage or fatty acid oxidation and mitochondrial defects. Metabolic myopathies result from abnormalities of enzymes concerned with metabolism of carbohydrates or lipids which are the primary source of energy for skeletal muscles. Muscles utilize carbohydrates in the form of muscle glycogen and lipids in the form of free fatty acid as fuel⁷.

Incidence:

McArdle disease (GSD5) is the most common metabolic myopathy (approximately 1 in 100,000 individuals), and is due to heterozygous mutations in the PYGM gene.

Pathophysiology:

Muscle fatigue especially during the start of the exercise phase is the characteristic presentation of McArdle’s disease. Various studies have found that this fatigue is due to accumulation of inorganic phosphate and ADP rather than due to ATP depletion⁸. The myophosphorylase (PYGM) gene mutation leads to inability to activate glycogenolytic pathway and alters the cellular energy charge within 10-20 seconds of exercise initiation. Thus, to maintain the high ATP demand during exercise the skeletal muscles depend more on adenylate kinase pathway and phosphocreatinine hydrolysis due to the absence of activation of glycolytic pathway by myophosphorylase defect⁹.

Clinical presentation:

• Glycolytic/glycogenolytic pathway defective myopathies present with power/sprint sports with high intensity and short duration at the initiation of rest – exercise interval; whereas the fatty acid oxidation defective and mitochondrial myopathies present with long duration endurance sports.
• McArdle’s disease usually presents in second or third decade of life as the subject gets accustomed to the symptoms and modifies life style accordingly.
• The family history is usually not significant showing its autosomal recessive inheritance.
• Exercise induced myalgia, rapid fatigue, cramps especially in the first 10-20 seconds of initiation of unaccustomed, high – intensity exercises is the commonest presentation.
• Patients with McArdle disease often report a significant reduction in the perception of effort after a few minutes of activity co-temporal with the delivery of blood-borne substrates, which is referred to as the second wind phenomenon. This phenomenon is characteristically absent in other glycolytic defects¹⁰.

Diagnosis:

• Chronically elevated serum Creatinine kinase & Serum uric acid is elevated in 50% of cases¹¹
• Isometric forearm exercise test and non- isometric forearm exercise test help to diagnose various myopathies by measurement of lactate and ammonia levels before and after the exercise. In case of McArdle’s disease there is a rise in ammonia level with no change in lactate level.
• Muscle biopsy helps to diagnose as well as differentiate from other myopathies. It may show high glycogen and absence of phosphorylase¹².

Management:

Careful and progressive exercise training, avoiding strenuous and maximal aerobic exercises

Pre – exercise sucrose or glucose in form of drinks or high carbohydrate meals help reduce the symptoms¹³.

Genetic counselling and family surveillance helps in early detection of the condition.

Individuals have been benefitted from moderate-intensity aerobic training (e.g., walking or brisk walking, bicycling) which increase cardiorespiratory fitness and muscle oxidative capacity¹⁴.

Homoeopathic Management:

ARNICA MONTANA

“Muscular pains which are so apt to occur wherever there are voluntary muscles, or their tendinous prolongations”. Sore, lame, bruised feeling all through the body as if bruised ¹⁵

Pain, as if beaten or bruised in outer parts. Pressing in inner parts. Pricking from without inwards. Pain, as if sprained in outer parts and the joints. Tingling in outer parts. Tearing and drawing in outer parts. Over sensitiveness of the whole body. Twitching of the muscles.¹⁶It is a traumatic remedy par excellence. Trauma in all its varieties – mental or physical and their effects recent or remote are met with by this remedy. – It affects BLOOD, causing putrid and septic conditions. – BLOOD VESSELS are relaxed, causing ecchymosis, blue-black spots; with TENDENCY TO HAEMORRHAGE; epistaxis etc. – It acts upon nerves causing neuralgia. – Muscles feel VERY SORE, PAINFUL, BRUISED; all over. – Parts becomes sore, after the pains, or after bleeding.

BRYONIA ALBA

Bryonia develops a marked action on all Serous Membranes and the viscera they contain, causing Inflammation and exudation. – It disorders circulation, producing congestion; alters the blood, giving rise, to typhoid, bilious, rheumatic and remittent types of fevers. – Aversion to least motion, even to distant parts, is due to its action on nerves and muscles. Physical weakness; on slightest exertion; all pervading apathy¹⁷. Joints painful. Every spot in the body is painful to pressure. Pains are bursting, stitching or heavy sore, going backwards. Right sided effects.

ACTEA RACEMOSA

– This remedy has a wide action on Nerves and Muscles. General sick feeling; with exhaustion. Belly of the muscles feel bruised, sore, heavy aching. – Trembling, twitching in various organs or of part lain on. – Compressive pains. Uneasy and restless feeling in the limbs. Myalgia.¹⁸Bruised, sore or heavy, aching muscles.

GELSEMIUM SEMPERVIENS

“The most prominent of all the effects of Gelsemium is to induce a profound and intense prostration of the whole muscular system. its effects are first manifested on the voluntary muscles and then on the involuntary. This action is causes by impairing the vitality of those nerves which supply it with life” – HALE. In muscles it causes overpowering ACHING; TIREDNESS; HEAVINESS; WEAKNESS AND SORENESS esp. felt in the muscles of the extremities.¹⁹ Grippe. Overpowering aching. Heavy single parts, heart, liver, etc.

RHUS TOXICODENDRON

Symptoms appear on the left side or go from left to right. – Pains are Tearing, Shooting; Stitching; agg. at Night; Can Not Rest; in any position. – Parts feel sore, bruised and Stiff. – Pains as if the flesh was torn loose from the bones. – Dislocative sensation. – Muscles twitch. – Crawling. – Numbness; of parts paralyzed. – Trembling. Legs feel dead, wooden. – Cramps in calves. – Involuntary limping. – Soreness of condyles of bones. – Limbs stiff, paralyzed. – Hot painful swelling of joints. – Pricking like pins in tips of fingers and palms when grasping¹Stiffness of muscles and joints. Motion “limbers up” the Rhus-t. patient and hence he feels better for a time from a change of position. Ailments from strains, over lifting. Pains are tearing, shooting, stitching, worse at night, cannot rest in any position. Parts feel sore, bruised and stiff. Pains as if the flesh was torn loose from the bones. Dislocated sensation²⁰.

SANGUINARIA CANADENSIS

Pains in places where bones are least covered. Cutting pain or stiffness in right deltoid agg. raising or turning arm. – Rheumatism of right shoulder and left hip joint. – Pain in shoulder agg. night. – Pain in bone near surface. – Neuritis amel. by touching the part²¹.

Conclusion:

The book written by Richard Hughes, The Cyclopedia of Drug Pathogenesy was a wonderful and important attempt to present a truly vast collection of the Materia medica and demanded a high degree of dedication from its readers as well, there are so many concepts still hidden and un explored in most of his writings which has to be explored at least now and make our system more scientific, to be more precise in this era it can be termed as research. This article is an attempt to ignite the idea of how pathological similimum can be used in rare disorders by matching the disease totality with drug totality and administering a pathological similimum as when required during our day-to-day clinical practice & when we come across such diseases with prominent pathological findings & less mental as well as physical generals, we need to consider this kind of prescription when the case is asking for it.

References:

1. Harrison’s manual of medicine – 19^th edition – page no. 1059
2. Davidson’s principles and practice of medicine – 23^rd edition – page n0 . 1143-1146
3. API textbook of medicine – 9^th edition – page no. 1553- 1554
4. Textbook of medicine – KV Krishna Das – 5 th edition – page no. 1335-1342
5. Textbook of pathology – Harsh Mohan – 7^th edition – page no . 850
6. Robbin’s basic pathology – 10^th edition – page no.s 840- 845
7. Martín MA, Lucia A, Arenas J, Andreu AL. Glycogen Storage Disease Type V. 2006 Apr 19 [updated 2019 Jun 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301518.
8. The pathophysiology of McArdle’s disease: clues to regulation in exercise and fatigue – S. F. Lewis and R. G. Haller; Journal of Applied Physiology 1986 61:2, 391-401
9. Hargreaves, M., Spriet, L.L. Skeletal muscle energy metabolism during exercise. Nat Metab 2, 817–828 (2020). https://doi.org/10.1038/s42255-020-0251-4
10. https://www.ninds.nih.gov/Disorders/All-Disorders/Myopathy-Information-Page
11. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Current neurology and neuroscience reports. 2010 Mar;10(2):118-26
12. Tarnopolsky MA. Metabolic myopathies. CONTINUUM: Lifelong Learning in Neurology. 2016 Dec 1;22(6):1829-51. REFERENCES MM
13.  Textbook of Materia medica -SR Phatak
14.  Murphy’s Materia– Robin Murphy
15.  Boger’s synoptic key – C.M. Boger
16.  Characteristic Materia medica – W H Burt
17.  Keynotes of leading remedies of Materia medica – Dr. Adolph von Lippe
18.  The pocket manual of homoeopathic Materia medica – William Boericke
19.  Systematic Materia medica – KN Mathur
20.  Keynotes of Materia medica – H.C. Allen
21.  Comparative Materia medica – E.A. Farrington

AUTHORS:

Dr Skandhan. S. Kumar, BHMS MD Organon of Medicine (Gold Medalist), Assistant professor department of organon of medicine and philosophy, Father Muller Homoeopathic Medical College.

Jiddu Sai Akhila, Student Final Year BHMS 2022, Father Muller Homoeopathic Medical College.