Category Archives: Developmental disorders

Developmental disorders and developmental anomalies

DMD – DUCHENNE MUSCULAR DYSTROPHY

DMD – DUCHENNE MUSCULAR DYSTROPHY also called DUCHENNE SYNDROME is a X linked recessive genetic disorder; classified under progressive neuromuscular disorders; where in there is mutation of gene expressing the cytoplasmic protein “Dystrophin” causing muscle weakness and wasting.

DYSTROPHIN

Dystrophin expressing gene is one of the longest human genes known with 2.3 megabases present on short arm of chromosome X present at locus xp21,

Various proteins colocalises with dystrophin to form Dystrophin-Associated Protein Complex or Costamere. Costamere is an integral component in maintaining structural-functional integrity of striated muscle cells. As Costamere are responsible for linking of internal cytoskeletal system of each muscle fibers to extracellular matrix of collagen and laminin through cell membrane. So costamere connects sarcomere through sarcolemma to the extracellular matrix. So mutation in gene responsible for expressing cytoplasmic protein dystrophin causes structural-functional loss of muscle cell resulting into muscular dystrophy.

Dystrophin plays major role in function of binding of following molecules

  • Nitric Oxide Synthase
  • Dystroglycan
  • Vinculin
  • Myocin
  • Actin
  • Other proteins
  • Zinc and other metal ion
  • Other cytoskeletal and muscle constituents

THUS DYSTROPHIN PLAYS MAJOR ROLE IN BIOCHEMISTRY OF MANY PHYSIOLOGICAL ACTIVITIES

  • Regulates Ryanodine-sensitive calcium-release channel activity, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, activity of voltage-gated calcium channel. It is required in activity of Sodium ion transmembrane activity.
  • Downregulates peptidyl-cysteine S-nitrosylation and peptidyl-serine phosphorylation, Cellular protein localization, cellular macromolecular complex assembly, peptide biosynthetic process.
  • Upregulates Neuron differentiation, neuron projection development, sodium ion transmembrane transporter activity.
  • Cardiomyocyte action potential, contractibility by regulating release of sequestered calcium ion thus playing major role in regulating the Heart Rate.
  • Myocyte cellular homeostasis. Myofibril development, sliding, response to stretching, Regulates skeletal muscle contraction by regulating release of sequestered calcium ion, required in cytoskeleton organization.
  • It regulates cellular response to Growth Factor stimulus. Thus it is also required in growth and development of muscle organ.

EPIDEMIOLOGY OF DMD

Duchenne’s Muscular Dystrophy one of the most common type of muscular dystrophy affecting 1 in every 5000 male at birth with life expectancy of affected individuals of around 25 years on an average. Many cases show increase in life expectancy of up to additional 10-15 years with proper care and management.

SIGNS AND SYMPTOMS OF DMD

DMD presents itself with progressive muscle wasting, general weakness fatigue, debility, in later stages complete loss of power in muscles. This loss of power is attributed to muscular dystrophy rather than nerve involvement which is evident on EMG.

Initially there are not many noticeable symptoms but some parents may complaint of child having difficulty in milestone of turning over, or they may say not able to walk properly or “never saw him running or climbing stairs”.

Mental signs and symptoms may start presenting itself more evidently, well in advance, even before physical symptoms become evident. They may show cognitive difficulty, parents may complaint about child having difficulty in talking or getting words, short term verbal memory, many show symptoms of Dyslexia or ADHD and mental symptoms tend to improve after occupational and speech therapy during early childhood but again worsens in later stage of disease.

Physical signs and symptoms starts becoming frankly noticeable only after age of 2-3yrs as described below

General muscle wasting with muscle contractures due to fibrosis the muscles becomes short and they have hypertonicity with much of muscle fibre replaced with fibrous tissue or fat accumution all this gives rise to Pseudo-hypertrophy of muscles especially of calf, hips and shoulders, even tongue becomes thick and enlarged.

At first the muscles of calfs, extensor of knees other muscles of thigh and hip joint are involved then other pelvic muscles and shoulder gets involved so the disease progresses from below upwards

Skeletal deformities due to abnormal muscle tension distribution causing abnormal gait and resultant skeletal deformities like scoliosis, lumbar hyperlordosis

Difficulty walking -typically patient walks on forefeet or toes, running, jumping, hopping, climbing upstairs or down stairs.

Difficulty standing up from lying or sitting posture. Positive Gower’s Sign. If patient is sitting on ground he typically first puts his arms on floor and transfer upper body weight to ground through arms and the lifts pelvic region now with both arms and both knees touching ground and middle body lifted up, he then lifts one knee by putting foot on ground then he works his arms to lift other knee and then stand up by supporting thigh.

Due to muscle dystrophy and weakness patient has abnormal gait and they tend to fall to frequently so they frequently complaint about bodyaches which seems more to be due to trauma due to frequent falls rather than due to disease itself.

In later stages there is complete loss of ability to walk at around 12 yrs of age around and later on at around age of 20yrs there is complete inability to move body from below neck.

Patient’s respiratory muscles gets involved in later stage causing respiratory disorders where in they are required to be assisted with artificial ventilation. Food and fluids pass into respiratory passage. Patient may suffer from severe frequent Pneumonia.

Average life span of person is around 25 years and very few with extreme care have reported to reach out 45yrs of age.

Laboratory Investigations Shows

  • Cardiomyopathies (disorders of heart muscles) causing arrythmias (abnormal heart rhythm)
  • High blood Creatine-Kinase level.
  • Defects in Xp21 gene
  • Biopsy of muscles shows absence of dystrophin
  • High blood Creatine-Kinase level.
  • EMG shows changes of muscle dystrophy rather than nerve involvement

DIAGNOSIS OF DMD

  • DNA testing
  • Muscle Biopsy
  • Prenatal Screening

HOMEOPATHIC TTREATMENT WITH INDICATED MEDICINES FOR DMD

As DMD is a deep seated genetic complaint that passes on generation to generation. So Homeopathic constitutional approach is required and more the disease becomes deep seated and more it passes on from generation to generation the more it starts manifesting it’s symptoms in mental sphere. So mental symptoms are to be carefully evaluated for Homeopathic individualisation at the same time one should not forget that even though the disease has manifested in mental sphere but it’s more pronounced on physical sphere where it shows typical ascending type of muscle wasting. Muscle dystrophy is due to defective production of dystrophin which primarily is functional disturbance and structural loss is secondary to it. So basically Psora has strongly established itself from generations to generations within the constitution of these patients.

HOMEOPATHIC MEDICINES FOR DMD

  • Abrotanum – ascending muscle wasting – If one medicine for DMD patients is to be opted, which in most cases will act to certain degree, then my bet will be on abrotanum – personally I have got notable results with this medicine in cases of DMD if posology is well taken care of while administering, as in homeopathy it’s potency selection and repetition is the key to break the case!
  • Baryta Carb
  • Calcarea Carb
  • Calcarea Phos
  • Stannum Metallicum
  • Alfalfa
  • Agaricus Muscarious
  • Arsenicum Album
  • Zincum Metallicum
  • Phosphorus
  • Acidum Nitricum

SUPPORTIVE TREATMENT AND MANAGEMENT

Exercise -mild non-jarring like swimming helps maintain muscle strength without stressing or damaging it much

Physiotherapy helps to maintain muscle tone.

Supportive rehabilitation kits and orthopedic appliances like braces etc

Artificial respirator support in later stages when respiratory muscles starts weaknening

Pacemakers in patients with arrhythmia

RICKETS

Rickets is a childhood disease mainly occuring due to vitamin D deficiency. The bones become weak and soft and are more prone to fracture and deformities.
Osteomalacia is similar condition occuring in adults.

Types of Rickets

Hypocalcemic Rickets  – This occurs due to impaired metabolism of vitamin D and calcium resulting into vitamin D deficiency and Calcium deficiency.
Hypophosphatemic Rickets – This occurs due to low serum phosphate levels.

Causes

Vitamin D Deficiency
-decreaed sun exposure
-malabsorption disease
•Chronic liver disease
•Renal tubular disease
•Neonatal hepatitis
•Limited breast feeding
•Improper diet
•Certain medications

•Certain Genetic anomalies

For Pathophysiology Also Refer This link VITAMIN D DEFICIENCY

Genes Related to Rickets-

•The most common form of disease is X-lined hypophosphatemic rickets (XLH).
•It is an autosomal form of disease.
•XLH rickets occur due to inactiving mutations in PHEX gene.
•PHEX(Phosphate regulating neutral endopeptidase) gene is expressed in bones , teeth and in mineralization and renal phosphate reabsorption.
•PHEX is involved in suppressing the response of FGF23
•FGF23(Fibroblast growth factor 23) gene signals the kidney to stop reabsorption of phosphate in to bloodstream.
•PHEX mutations lowers the tubular reabsorption of phosphate and vit D.
This contribute to bone diseases.

Signs and Symptoms

•Muscle weakness
•Bone tenderness and retarded growth
•Delayed closure of anterior frontalle
•Delayed eruption of teeth and enamel defect
•Enlargement of long bones
•Anterior curving of legs,bow legs
•Green stick fracture
•Seizures and tetany
•Improper gait, bone pain

Diagnosis

Blood tests – Serum calcium and serum phosphate show low level along with changes in shape and structure of bone’s.
Bone biopsy for confirmation.

Homoeopathic Medicine for Rickets-

Thyroidinum – Thyroid producing anaemia, muscular weakness, nervous tremor, rheumatoid arthritis. Infantile wasting rickets. Delayed union of bones, nocturnal enuresis. Oedema of legs.

Phosphorus – Dullnes of head, obstinate vertigo. Caries in teeth, drawing and tearing toothache, bleeding and grinding of teeth, gums separated from teeth. Weakness in all limbs, swelling of hand and feets, joint stiff.

Calcaria Phosphorica – Wewakness of bones,large open frontalle, headache, skull soft. Slow dentition, tearing boring pain in gums, fever during dentition,pain in molars. Rheumatic pain in shoulder and arms, paralysis of joints.

Baryta Carbonica – Suited to old people, dwarfs, scrofulous children inclined to grow fat. Glandular swelling. Chronic enlargement of tonsils. Abdomen distended and hard.

Thuja occidentalis – Scalp sensitive to touch and painful, weakness in head. Caries of teeth, crown of teeth remains sound, gums swollen. Trembling of hands and feets, cracking of joints, frozen limbs.

Silicea terra – Stiffness of nape,caries of clavicle, swelling of gland in nape,coccyx painful, tearing and shooting pain in back.Weakness of joints,cramps of arms and legs,jerk in limbs.

Kalium Iodatum – Glands swollen or atrophied. Gouty daithesis. Swelling of bones, contraction of muscles and tendons, pain after long injury.its is also very well indicated in Dropsy accompanying Rickets basically due to renal complaints impairing calcium resoption.

Conservative management for Rickets-

  • Exposure to Ultraviolet B rays
  • Increasing dietary intake of calcium
  • Phosphate and vitamin D
  • Cod liver oil
  • Halibut liver oil
  • Vit D fortified milk
  • Vit D supplements

VITAMIN D DEFICIENCY Homeopathic Medicines and Homeopathic Treatment Methodology

CALCIUM DEFICIENCY Homeopathic Medicines with Homeopathic Treatment Approach

OSTEOPOROSIS Homeopathic Medicines And Homeopathic Treatment Approach

OSTEOPOROSIS

Osteoporosis is a disorder of bone where reduced Bone Mineral Density makes the bones fragile

Osteoporosis is a silent disease that causes thinning and weakening of bones

There is decrease in Bone Mineral Density making the bones weak and brittle

Risk Factors of Osteoporosis

  • AGE  and SEX – as age advances chances of osteoporosis increases, Bone Mineral density reached its peak at around 30 yrs of age. Then after certain years it gradually starts depleting due to depleting levels of Growth hormone and later more pronounced after 48 in women and after 60 in men, its attributed to depletion of oestrogen in females and depletion of testosterone in males. its more common and severe in females as oestrogen depletion in females affects more compared to effect of testosterone depletion in males.
  • Genetics and Familial Predesposition
  • Habitat  – in region or lifestyle with lesser exposure to sunlight.
  • Vitamin D deficiency
  • Parathyroid Dysfunctions
  • Thyroid Dysfunctions
  • Kidney diseases
  • Diabetes Mellitus
  • Acromegaly
  • Certain rheumatological conditions
  • Parkinson’s Disease
  • Sedentary lifestyle lack of exercise and physical activity
  • Excessive tobacco smoking
  • High Protein diet
  • High intake of phosphoric acid, usually its through areated soft drinks
  • Prolonged increased exposure to Cadmium.
  • Malabsorption and Malnutrition

Pathophysiology of Osteoporosis

(this part is under construction)

Bone constitutes major portion of Human Skeleton

There Are Over 206 bones in skeleton primarily it consists 270 bones at birth later they fuse together during development

Bones Differs in various size shapes and structures

Bones not only performs the functions of protection protection and support to the body but also helps in storage of minerals lipids and nutritients

Tissue that constitute bone are of two types that gives strength and rigidity to bones viz:

  1. Cortical bone – Cortical Bone forms the outer layer of most of the bones. It is stiffest and hardest. It helps in supporting and protecting the soft tissues of body and gives shape to the body. It Consists of Osteons that in turn consists of Haversion Canal that allows the blood vessels and nerves to travel through them.
  2. Cancellous Bone – It occur at the end of the Long Bones. It is less stiff and weaker compered to the Cortical Bone. They Consists of Red Bone Marrow that produce Blood Cells

The Bone tissue exibits following type of cells:

  • Osteoblast
  • Osteoclast
  • Osteocyte

They help in Synthesization, Bone Resorption as well as Maintainence and repair of bones

Osteoporosis most commonly occurs due to the imbalance in bone resorption and bone formation and insufficient mass

Low Bone Density occurs when osteoclast degrads bone matrix faster than osteoblasts.

Role of Parathyroid Gland in Calcium Metabolism and Osteoporosis

•Hyperparathyroidism-Hyperparathyroidism can be defined as a condition when one or more of the parathyroid glands become hyperactivie and increases in size.
This leads to increased PTH levels in blood
Parathyroid Hormone Vitamin D and Calcium Metabolism 
•Parathyroid hormone is secreted by parathyroid glands.
•PTH along with vit D helps in regulation of calcium level in human body.
•PTH is secreted through negative feedback mechanism of the body when the serum calcium levels are decreased.
•Vit D regulates intestinal absorption of calcium.
•Calcitrol the active form of vit D regulates calcium metabolism.
•Vit D3 is produced from 7-dehydrocholestrol when the skin is exposed to Ultraviolet rays
•Vit D3(Cholecalciferol) is then carried to liver via blood where it undergoes two hydroxylation process.
•First it goes under hydroxylation in liver forming Calcidol 25(OH) and then in kidneys forming Calcidol(1,25 dihyrdroxy vit D).
•The decreased serum calcium level stimulates PTH secretion.
•As Bones are the major store house of calcium,the secreted PTH corrects calcium level by mobilizing calcium from bone through destruction of bones by osteoclasts.
•This leads to osteoporosis where there is weakening of bone decreasing it’s density.

Signs and Symptoms of Osteoporosis

  • Osteoporosis itself may stay silent and show no symptom untill bone becomes weak and break down.
  • Acute and chronic pain in bones and muscles.
  • May precipitate or trigger osteoarthritis
  • Deformities and anomalies to carry out normal daily activities.
  • Stooped posture, loss of height, collapse (loss of consciousness).
  • Fractures are most dangerous aspect of osteoporosis. Fractures most commonly occurs in spine, hip, rib, shoulder, wrist.

Diagnosis of Osteoporosis

The normal Bone Density is within +/-1 SD(+1 or-1)(Standard Deviation) in young adults.

The Score Between -1 and -2.5 is indication of low bone mass.

The score of -2.5 or lower indicates osteoporosis.

  • X rays to an extent helps in detecting reduced Bone Mass also in detecting the complications of osteoporosis like fractures.
  • CT Scan and MRI helps in detecting complications of reduced bone mass, preosteoporosis or follow up examination.
  • Dual Energy X ray Absorptiometry(DEXA) is mostly used for evaluating Bone Mineral Density and its grading for diagnosis of Osteoporosis.
  • Quantitave Ultrasound is a non-invasive method of estimating bone density and risk of bone fracture.
  • Certain Biomarkers are also useful in detecting bone degradation.

Homoeopathic Medicines for Osteoporosis

  • CALCAREA PHOSPHORICA 

    It affects the nutrition of bones and glands indicated in it Homoeopathic form when bones becomes soft brittle and thin, promotes ossification of bones in non union of fractures, pain and burning along the sutures, shifting pain, malassimilation.

  • CALCAREA CARBONICA

    Improper assimilation of calcium gives rise to defective nutrition of bones glands and skin. Swelling of the joints especially knee weakness and trembling of limbs.

  • SYMPHYTUM OFFICINALE 

    injuries to cartilage, periosteum, comminuted fractures, non union of fractures, deficient callus, arthralgia of knees, carries of vertebrae.

  • RUTA GRAVEOLENS 

    Sore tendons, injured or bruised bones, formation of deposit or nodes in periosteum and tendons, ill effects of bruise, fractured bones, brittle paralytic rigidity of injured or affected part.

  • FLOURICUM ACIDUM

    This remedy should be thought of when osteoporosis secondary to some chronic metabolic digestive or autommune condition or post chronic debilitating deep seated  infections  produces slow deeply destructive effects carries of long bones ulceration varicose veins bedsores calcareous degeneration tissues are puffy indurated and fistulus.

  • Ammonium Muriaticum 

    A good remedy to combat secondary effects and complications of osteoporosis especially those due to nerve compression due to degenerative changes of spine as a complication of osteoporosis. Patient has tension and tightness as if muscles or tendons are too short neuralgic pain in stumpsof amputed limbs sciatica pain in heels.

 

VITAMIN D DEFICIENCY Homeopathic Medicines and Homeopathic Treatment Methodology