Diagnosis
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| Handigodu syndrome | |
|---|---|
| Specialty | Orthopedic |
Handigodu syndrome is a rare and painful osteoarthritic disorder endemic to the Malnad region in the state of Karnataka, India. [1] Also known as Handigodu Joint Disease, it derives its name from the village of Handigodu in the Sagara taluk of the Shimoga district of Karnataka where it was first noticed. This disease currently has no cure. [2] Scientifically it is termed as Endemic Familial Arthritis of Malnad . [3] Since the day it was discovered, it has claimed over 1000 lives and has left many people crippled. [4] Apart from Sagara taluk, the disease has also been reported from the Koppa, Narasimharajapura and Sringeri taluks of Chikkamagaluru district. [3]
Symptoms of the disease are an acute pain and swelling in the hips and knee joints. Some of the other characteristics of this disease are dwarfism from birth, deformation of the limbs after age seven and death as early as between 25 and 30 years or even younger. [4] Depending on the mobility of the affected patients, the disease has been identified with three severities: in mild to moderate cases, the patient is able to walk with difficulty, in severe cases mobility is very restricted, whereas in acute cases the limbs are bent and badly crippled making the patients crawl. [3]
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A team from the National Institute of Nutrition, Hyderabad conducted research in the affected regions and found out that the disease was confined to a dalit colony. [3] They also found out that the disease was affecting people of all age groups and it was non-contagious and non-infectious. This research was further followed by research conducted over four years (1984–88) by the Indian Council of Medical Research (ICMR). Study groups involving experts from different medical fields were formed and these groups visited the affected places to conduct experiments. They were also helped by the Health Department of Karnataka who also provided a team to assist them. Despite undertaking extensive research, the team could not come into any conclusion on the cause of the disease. [3] The team wound up in 1988 and this was the first phase of their research. The second phase of the research by ICMR was started in the year 2001 under the leadership of S. S. Agarwal of the Sanjay Gandhi Post-graduate centre in Lucknow. Some of the activities in the second phase were to x-ray the patients and also study their family history to see if the disease was related to genetics. The study reported that Handigodu syndrome is a syndrome of familial spondyloepi(meta)physeal dysplasia. [5] It is inherited as an autosomal dominant trait. [5] All the presentations of the varied manifestation of the disease could be explained as being caused by defective development of bones as a result of monogenic disorder. [5]
Handigodu syndrome was first noticed by H M Chandrashekhar in the village of Handigodu during the years 1974-75. [4] Four patients who complained of severe joint and hip pain were admitted to the General Hospital at Sagar. The doctors who could not diagnose the problem attributed the pain to some neurological disorder. [3] Seeking advice on this disease, a team of experts led by K. S. Mani, a neurologist from NIMHANS, Bangalore visited the region. [3] After examining the patients, they ruled out any neurological disorder and implied that the pain was due to a bone and joint disorder.[ citation needed ]
A subsistence allowance is provided to the patients by the Government of Karnataka from the fund reserved for the physically challenged. Assistance has also been provided to construct houses for them. A special treatment unit has been set up in the Government Hospital at Sagar with an ambulance provided to shift the affected patients to the hospital. [4]
Arthritis is a term often used to mean any disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, swelling, and decreased range of motion of the affected joints. In some types of arthritis, other organs are also affected. Onset can be gradual or sudden.
Complex regional pain syndrome (CRPS), also known as reflex sympathetic dystrophy (RSD), describes an array of painful conditions that are characterized by a continuing regional pain that is seemingly disproportionate in time or degree to the usual course of any known trauma or other lesion. Usually starting in a limb, it manifests as extreme pain, swelling, limited range of motion, and changes to the skin and bones. It may initially affect one limb and then spread throughout the body; 35% of affected people report symptoms throughout their whole bodies. Two subtypes exist. Having both types is possible.
Ehlers–Danlos syndromes (EDS) are a group of thirteen genetic connective-tissue disorders that are in the current classification, with a fourteenth type discovered in 2018. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
Rheumatology is a branch of medicine devoted to the diagnosis and therapy of rheumatic diseases. Physicians who have undergone formal training in rheumatology are called rheumatologists. Rheumatologists deal mainly with immune-mediated disorders of the musculoskeletal system, soft tissues, autoimmune diseases, vasculitides, and inherited connective tissue disorders.
Multiple endocrine neoplasia is a condition which encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. In some cases, the tumors are malignant, in others, benign. Benign or malignant tumors of nonendocrine tissues occur as components of some of these tumor syndromes.
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called pyrin. While all ethnic groups are susceptible to FMF, it usually occurs in people of Mediterranean origin—including Sephardic Jews, Mizrahi Jews, Ashkenazi Jews, Assyrians, Armenians, Levantines, Kurds, Greeks and Italians.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs are also found in the fluids that lubricate joints.
Erythromelalgia or Mitchell's disease, is a rare vascular peripheral pain disorder in which blood vessels, usually in the lower extremities or hands, are episodically blocked, then become hyperemic and inflamed. There is severe burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, polycythemia vera, essential thrombocytosis, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. Primary erythromelalgia is caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A.
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain.
Shimoga district, officially known as Shivamogga district, is a district in the Karnataka state of India. A major part of Shimoga district lies in the Malnad region or the Sahyadri. Shimoga city is its administrative centre. Jog Falls view point is a major tourist attraction. As of 2011 Shimoga district has a population of 1,752,753. There are seven taluks: Soraba, Sagara, Hosanagar, Shimoga, Shikaripura, Thirthahalli, and Bhadravathi. Channagiri and Honnali were part of Shimoga district until 1997 when it became part of the newly formed Davanagere district.
Hosanagar is a panchayat town in Shimoga district in the Indian state of Karnataka. It is nested in western ghats of India. The World Cattle Conference with main emphasis on cow was held in month of April 2007 in Hosanagar. The different uses of cow were exhibited. Near Hosanagar there is a mutt named Sri Ramachandrapura Math, 6 km from the town.
The Indian Council of Medical Research (ICMR), the apex body in India for the formulation, coordination and promotion of biomedical research, is one of the oldest and largest medical research bodies in the world. The ICMR is funded by the Government of India through the Department of Health Research, Ministry of Health and Family Welfare. In 2007 the organization established the Clinical Trials Registry - India, which is India's national registry for clinical trials.
The state of Karnataka in India has a bittersweet relationship with rains. While its regions of Malnad and Coastal Karnataka receive copious amount of rainfall; its north Bayaluseemae region in the Deccan Plateau is one of the most arid regions in the country. Most of the rains received in the state is during the monsoon season. Being an agrarian economy with a large percentage of its citizens engaged in agriculture, the failure of rains can have a crippling effect on the economy of the state. Apart from the benefits in agriculture, the Government of Karnataka has tried to avail other benefits of rainfall using scientific methods. An example of this is the project, Rainwater Harvesting in Rural Karnataka which is initiated by the Karnataka State Council for Science and Technology and is one of the largest rainwater harvesting projects in the world. Agumbe in the Shimoga district, Amagaon in Belgaum District, Hulikal again in Shimoga district and Talakaveri in Madikeri are some of the known places with the highest annual rainfall in South India. Of this Amagaon has received over 10000 mm rain fall twice in 10 years.
Paroxysmal extreme pain disorder originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well as flushing. PEPD often first manifests at the beginning of life, perhaps even in utero, with symptoms persisting throughout life. PEPD symptoms are reminiscent of primary erythromelalgia, as both result in flushing and episodic pain, though pain is typically present in the extremities for primary erythromelalgia. Both of these disorders have recently been shown to be allelic, both caused by mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. A different mutation in "SCN9A" causes congenital insensitivity to pain.
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation.
PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disorder characterised by its effects on skin and joints.
Knee pain is pain in or around the knee.
Genu recurvatum is a deformity in the knee joint, so that the knee bends backwards. In this deformity, excessive extension occurs in the tibiofemoral joint. Genu recurvatum is also called knee hyperextension and back knee. This deformity is more common in women and people with familial ligamentous laxity. Hyperextension of the knee may be mild, moderate or severe.
Sagara is a city located in the Indian state of Karnataka and it is also a sub divisional and a taluk headquarters. Located in the Sahyadri Mountain range on the banks of river Varada, it is known for its proximity to Jog Falls and to the historical places of Ikkeri, Keladi and Varadamoola. The river Varada originates near Varada-moola. Sagara subdivision consists of Sagara, Soraba, Hosanagara and Shikaripur taluks.
Louis Ptáček is an American neurologist and professor who contributed greatly to the field of genetics and neuroscience. He was also an HHMI investigator from 1997 to 2018. His chief areas of research include the understanding of inherited Mendelian disorders and circadian rhythm genes. Currently, Ptáček is a neurology professor and a director of the Division of Neurogenetics in University of California, San Francisco, School of Medicine. His current investigations primarily focus on extensive clinical studies in families with hereditary disorders, which include identifying and characterizing the genes responsible for neurological variations.