Paediatric Convulsions Paediatric Convulsions Home Overview Paediatric convulsions, also known as seizures, are sudden, uncontrolled electrical disturbances in a child's brain. They can manifest in various forms, ranging from subtle staring spells to dramatic shaking and loss of consciousness. Such events can be alarming for parents and healthcare providers, requiring prompt and effective management. Tertiary care hospitals, such as ours, play a critical role in diagnosing, managing, and treating paediatric convulsions, supported by specialised staff and advanced medical technology. Cause Causes of paediatric seizures can vary and include the following:Febrile seizures: These seizures are generally triggered by a rapid increase in the body temperature and are typically caused by infections, such as viral or bacterial infections. These seizures are most common in children between the ages of 6 months and 6 years.Afebrile seizures: These seizures occur without fever and are often caused by underlying conditions, which include the following:Neurological disorders, such as recurrent seizures (epilepsy) or motor disorder (cerebral palsy)Metabolic imbalances, such as low blood sugar (hypoglycaemia), low calcium (hypocalcaemia), or electrolyte imbalancesGenetic conditions (a family history of epilepsy or seizure disorders)Brain injuries due to trauma or hypoxia during birthInfections that affect the brain, such as meningitis or encephalitisStructural abnormalities in the brain identified through neuroimaging Risk factors Family history of epilepsy or seizuresPrevious febrile seizuresPremature birth or low birth weightDevelopmental delays or neurological impairmentsBrain infections or traumaExposure to toxins or drugs Symptoms The symptoms of seizures depend on the type of seizure and can range from mild to severe. Seizure symptoms include:Brief episodes of disorientationPeriods of unresponsiveness or vacant staringUncontrollable jerking of the arms and legsLoss of consciousness or awarenessCognitive or emotional changes, including sensations of fear and anxiety, or a sense of déjà vu (where one feels they have experienced the current moment before) Diagnosis To diagnose epilepsy, a comprehensive evaluation is conducted, which typically includes:Medical history review: This involves an investigation of the detailed family history of epilepsy or seizures to assess potential hereditary factors.Electroencephalogram (EEG): This is a key neurology diagnostic test that measures electrical activity in the brain and helps detect abnormal brain wave patterns linked to epilepsy.Diagnostic imaging: Brain magnetic resonance imaging (MRI) or computed tomography (CT) scans are performed to identify structural abnormalities or lesions in the brain that may contribute to seizures.Blood tests: These tests are performed to detect infections, metabolic imbalances, or genetic conditions that may be the underlying causes of the seizures.Electromyography (EMG) tests: In some cases, EMG may also be used to assess muscle responses, especially in differential diagnosis.This thorough approach helps guide effective epilepsy management. Treatment Managing childhood epilepsy and seizures requires a multidisciplinary approach in specialised neurology hospitals. Key aspects of epilepsy management and treatment include:Paediatric seizure treatment: Antiepileptic drugs (AEDs) are the first-line therapy with the choice of medication tailored to the type of seizure and the child's overall health.Epilepsy surgery for children: For children with drug-resistant epilepsy, surgery may be considered to remove the brain area causing seizures or mitigate abnormal brain activity.Neonatal seizure management: In newborns, management of seizures involves identifying the underlying cause and administering appropriate medication or supportive therapies.Childhood epilepsy treatment: Along with medication, treatment may include lifestyle changes, dietary interventions (like the ketogenic diet), or neuromodulation techniques (such as vagus nerve stimulation).Long-term epilepsy management: Ongoing care involves regular follow-up, monitoring seizure control, adjusting medications, and assessing cognitive and developmental progress.Regular follow-up is critical for managing paediatric convulsions. Tertiary care hospitals provide structured follow-up programmes, including routine EEG monitoring, medication adjustments, and ongoing assessment of the child’s developmental and cognitive progress. Support services, such as counselling and educational support for families, are integral to long-term care. Read more about Paediatric Convulsions Filter Alphabet P
Friedreich’s Ataxia Friedreich’s Ataxia Home Overview Friedreich’s ataxia refers to an autosomal recessive condition caused by trinucleotide (GAA) mutation in Frataxin gene. It causes difficulty in walking with imbalance, speech disturbance and multiple systemic complications. Cause Caused by a gene defect that is inherited from both parents. Risk factors Family historyChronic and excessive alcohol intakeHypothyroidism or hypoparathyroidismMultiple sclerosisCeliac diseaseSarcoidosisCancer-triggered paraneoplastic syndromeMultiple system atrophyAnti-seizure sedatives and medicationsExposure to heavy metals (mercury or lead), or solvents (paint thinner)Deficiency of vitamin E, B6, B12, or B1Excess intake of vitamin B-6 Symptoms Pyramidal weaknessGait ataxiaOptic atrophyDeafnessAxonal peripheral neuropathyAltered eye movements- nystagmus, hypometric saccades, macrosaccadic square wave jerks, broken pursuitSkeletal abnormalities: high arched foot, spinal deformities like scoliosisDiabetes or glucose intoleranceECG alterations: widespread T wave inversion Specialist to approach Neurologist Diagnosis Clinical examinationElectrophysiological testing for peripheral neuropathyECG, echocardiogramBlood tests for glucose levels, vitamin E levelsX-ray for scoliosisMRI/ CT scan for brain and spinal cordGenetic testing Treatment Symptomatic treatment, physiotherapy, gait trainingSurgical procedures for ankle contracturesOrthosis and assistive devicesManaging cardiac complicationsNewer therapy: Omaveloxolone (currently not available in India) Read more about Friedreich’s Ataxia Filter Alphabet F
Foot Drop Foot Drop Home Overview Foot drop is the inability to lift the front part of the foot. It is characterized by weakness or paralysis of muscles of foot that help to lift the foot off the ground. It results in dragging of the foot while walking. Causes Muscle or nerve damageNeurological disorders (stroke, spinal cord injury, multiple sclerosis, peripheral neuropathy as a part of diabetic neuropathy, multiple motor neuropathy, CMTD, HNPP)Trauma to the leg or footNerve compression as a result of positioning/ surgery Risk factors Nerve injuries from sports injuries, a slipped disc, or wearing a cast that puts pressure on the nerveSitting with legs crossed, kneeling, or squatting for long periods of timeUnmanaged type 2 diabetesOther medical conditions such as cerebral palsy, multiple sclerosis, Parkinson's disease, or strokeHip or knee replacement surgery can sometimes compress nervesImmobility Symptoms Difficulty lifting the front of the footDragging or slapping of foot while walkingMay be associated with tingling or numbness of footMay be associated with pain in foot Specialist to approach Neurologist Diagnosis Severity and intensity of nerve injury assessed by nerve conduction studiesMRI neurography to determine the level area of nerve injury/ compressionMRI spine to rule out radiculopathy/ root compression Treatment PhysiotherapyOrthotic or braces to support foot and ankleAssistive devices to aid walkingSurgery to repair/ decompress damaged nerves/ musclesElectrical stimulation therapy Read more about Foot Drop Filter Alphabet F
Pancreatic Cancer Pancreatic Cancer Home Overview Pancreatic cancer occurs when malignant (cancerous) cells form in the tissues of the pancreas, a vital organ in the digestive system that also regulates blood sugar through insulin production. The cancer is often aggressive and has a poor prognosis, primarily because it is frequently diagnosed at later stages. Types Exocrine pancreatic cancer (most common)Adenocarcinoma: The most common type, accounting for about 95% of cases. It starts in the cells lining the ducts of the pancreas and is known as pancreatic ductal adenocarcinoma (PDAC).Other types:Acinar cell carcinomaSquamous cell carcinomaUndifferentiated carcinomaColloid carcinoma (a rare, slower-growing type)Endocrine pancreatic cancer: These cancers develop in the hormone-producing cells of the pancreas (Islets of Langerhans). They are rarer and include:Insulinomas (produce insulin)Glucagonomas (produce glucagon)Gastrinomas (produce gastrin)Non-functional pancreatic neuroendocrine tumours (PNETs) Cause The exact cause of pancreatic cancer is not fully understood, but it is believed to involve a combination of genetic mutations and environmental factors that lead to uncontrolled cell growth. Risk factors Age: Most cases occur in individuals over 60 years old.Tobacco use: Smoking increases the risk significantly.Chronic pancreatitis: Long-term inflammation of the pancreas increases the risk.Family history and genetics: Inherited mutations like BRCA1/2, Lynch syndrome, and others increase the risk.Obesity and poor diet: Diets high in fats and red meats and being overweight may contribute.Diabetes: Long-standing type 2 diabetes is linked with an increased risk.Alcohol consumption: Heavy, chronic drinking can increase the risk of pancreatic cancer.Gender: Men have a slightly higher risk than women.Exposure to certain chemicals: Industrial chemicals like pesticides and dyes are linked to a higher risk. Symptoms Symptoms may not appear until the cancer is advanced, making early detection difficult. Common symptoms include:Jaundice: Caused due to bile duct obstruction.Abdominal pain: Often localised in the upper abdomen or back.Unexplained weight loss: A significant and unintended weight loss.Loss of appetite: A lack of interest in food.Fatigue: Feeling unusually tired or weak.Nausea and vomiting: Due to blockage or issues with digestion.New-onset diabetes: A sudden diagnosis of diabetes may indicate underlying pancreatic issues.Digestive problems: Difficulty digesting food, often due to poor enzyme production. Diagnosis Imaging testsCT scan: Commonly used to detect pancreatic tumours and evaluate their size and spread.MRI (magnetic resonance imaging): Provides detailed images of the pancreas and surrounding areas.Endoscopic ultrasound (EUS): A specialized ultrasound that uses a probe inserted into the digestive tract to view the pancreas directly.PET scan: Can help identify cancer spread.Endoscopic retrograde cholangiopancreatography (ERCP): Used to evaluate the bile ducts and pancreatic ducts.Biopsy: A sample of pancreatic tissue is taken (often via EUS or ERCP) to confirm cancer presence.Blood tests: Elevated levels of certain substances like CA 19-9 (a tumour marker) may suggest pancreatic cancer, though it’s not definitive.Genetic testing: In some cases, genetic mutations may be detected, aiding in treatment decisions and providing information on familial risks. Treatment Treatment depends on the cancer’s stage, location, and overall health of the patient.Surgical TreatmentWhipple procedure (pancreaticoduodenectomy): A common surgery for tumours in the head of the pancreas, which involves removing part of the pancreas, small intestine, bile duct, and gallbladder.Distal pancreatectomy: Removal of the tail or body of the pancreas.Total pancreatectomy: Removal of the entire pancreas, sometimes combined with removal of nearby organs.Chemotherapy: Chemotherapy is often the primary treatment for advanced pancreatic cancer. Drugs like FOLFIRINOX (a combination of fluorouracil, leucovorin, irinotecan, and oxaliplatin) or Gemcitabine are commonly used.Radiation therapy: Used either as the main treatment or in combination with surgery or chemotherapy. It aims to shrink tumours or relieve symptoms.Targeted therapy: Targeted treatments focus on specific genes or proteins involved in cancer growth. For instance, Erlotinib is sometimes used for pancreatic cancer with specific genetic markers.Immunotherapy: While still experimental for pancreatic cancer, immunotherapy is an emerging treatment that may boost the body’s immune system to fight cancer cells.Palliative care: In cases where surgery is not an option or cancer is advanced, palliative care aims to manage symptoms and improve quality of life. This can involve pain management, nutritional support, and alleviating digestive blockages Prognosis The prognosis for pancreatic cancer depends on the stage at diagnosis:Early-stage: Surgery may be an option, offering the best chance for survival.Late-stage: The cancer is often not operable, and survival rates are generally low. However, treatments like chemotherapy and radiation may help prolong life and relieve symptoms.5-year survival rate:Localized (confined to the pancreas): ~40%Regional (spread to nearby tissues): ~13%Distant (metastasized): ~3% Prevention While there is no guaranteed way to prevent pancreatic cancer, some steps can help lower the risk:Quit smoking and avoid tobacco products.Maintain a healthy weight and engage in regular physical activity.Limit alcohol consumption.Eat a balanced diet rich in fruits, vegetables, and whole grains.Manage diabetes and other risk conditions carefully. Read more about Pancreatic Cancer Filter Alphabet P
Facioscapulohumeral Muscular Dystrophy (FSHD) Facioscapulohumeral Muscular Dystrophy (FSHD) Home Overview FSHD, a neuromuscular disease, is a type of progressive muscular dystrophy that causes weakness and degeneration of muscles. FSHD typically involves face, shoulders and upper arms and may be asymmetrical. It is a progressive disease, but the progression rate and the degree of disability varies with individuals. However, it does not shorten the life span. Causes Genetic disorder inherited in an autosomal dominant pattern Risk factors Family historyNew mutationsMonosomy 18p Symptoms Muscle weakness and wastage especially in the face, upper arms, and shouldersFacial weakness manifesting as difficulty in closing eye lids, pursing of lips, and raising corners of the mouthWeakness of shoulders with winging of scapulaAbdominal protuberance and lumbar hyperlordosisFoot dropMuscle painHearing loss (occasionally) Specialist to approach Neurologist Diagnosis Clinical history and examinationGenetic testing to identify genetic mutations Types of FSHD FSHD 1FSHD 2The two types have the same signs and symptoms and are distinguished by their genetic cause. Treatment Physical therapy, bracing and reconstructive surgeryAssistive devices such as wheelchairs or splintsRespiratory and cardiac monitoring Read more about Facioscapulohumeral Muscular Dystrophy (FSHD) Filter Alphabet F
Pancreatic Fibrosis Pancreatic Fibrosis Home Overview Pancreatic fibrosis is characterised by the accumulation of fibrous tissue in the pancreas, leading to a reduction in its ability to function properly. This condition is often a result of chronic inflammation and damage to the pancreatic cells, disrupting the normal structure and function of the pancreas. Types Cystic fibrosis-related pancreatic fibrosis: This is the most common cause of pancreatic fibrosis in children and young adults. It results from cystic fibrosis, a genetic disorder that causes thick and sticky mucus to build up in various organs, including the pancreas. The mucus can obstruct ducts in the pancreas, leading to fibrosis.Chronic pancreatitis-related fibrosis: Chronic inflammation of the pancreas (chronic pancreatitis) is a major cause of pancreatic fibrosis. This can result from repeated episodes of acute pancreatitis or prolonged damage from alcohol use, gallstones, or other factors.Fibrosis due to pancreatic cancer: Tumours or cancers of the pancreas can lead to fibrosis, both as a result of tumour growth and the body's response to the tumour. In this case, fibrosis can contribute to impaired pancreatic function.Autoimmune pancreatitis: A rare type of pancreatitis in which the body’s immune system mistakenly attacks the pancreas, causing inflammation and fibrosis. Causes and risk factors Chronic pancreatitis:Long-term inflammation of the pancreas caused by alcohol abuse, gallstones, high triglycerides, or autoimmune diseases.Genetic disorders:Cystic fibrosis: A genetic condition that leads to thick mucus buildup in the pancreas.Hereditary pancreatitis: A rare genetic condition that increases the risk of recurrent pancreatitis and fibrosis.Pancreatic cancer:Pancreatic cancer can lead to the formation of fibrous tissue as part of the tumour's progression.Metabolic disorders:Conditions such as high cholesterol, high blood sugar (diabetes), and hypercalcemia can increase the risk.Infections and trauma:Certain infections or injury to the pancreas can lead to fibrotic changes.Smoking and alcohol abuse:Smoking and excessive alcohol consumption are major risk factors for developing chronic pancreatitis and fibrosis. Symptoms Symptoms of pancreatic fibrosis are often linked to the underlying cause (e.g., chronic pancreatitis or cystic fibrosis), but the fibrotic changes themselves can result in the following:Abdominal pain: Persistent or episodic abdominal pain, often in the upper abdomen or back.Digestive problems: Difficulty digesting food, leading to bloating, diarrhea, or fatty stools (steatorrhea) due to malabsorption of nutrients.Unexplained weight loss: Due to malabsorption of nutrients and insufficient pancreatic enzymes.Jaundice: Typically caused by a blockage in the bile ducts.Nausea and vomiting: These symptoms may occur, especially during acute episodes of pancreatic inflammation.Diabetes: As fibrosis progresses, insulin production in the pancreas can decrease, leading to diabetes. Diagnosis Blood tests:Elevated levels of certain enzymes (e.g., amylase, lipase) can indicate pancreatic inflammation.Blood glucose levels may be elevated if diabetes develops.Imaging tests:CT Scan (Computed Tomography): Provides detailed images of the pancreas and can show changes consistent with fibrosis.MRI (Magnetic Resonance Imaging): Used to assess the pancreas and surrounding tissues.Endoscopic Ultrasound (EUS): A highly sensitive method to detect fibrosis and pancreatic duct abnormalities.MRI/CT Cholangiopancreatography: For detailed visualization of pancreatic ducts.Biopsy: In some cases, a biopsy may be needed to confirm the presence of fibrosis.Genetic testing: In cases suspected to be related to cystic fibrosis or hereditary pancreatitis. Treatment Treatment of pancreatic fibrosis primarily focuses on addressing the underlying cause, managing symptoms, and preventing complications. The options include:Managing chronic pancreatitis or cystic fibrosis:Pain Management: Medications like acetaminophen or NSAIDs, and in severe cases, opioids.Pancreatic Enzyme Replacement Therapy (PERT): To help with nutrient digestion and alleviate digestive symptoms.Insulin Therapy: For patients who develop diabetes due to the loss of insulin-producing cells.Alcohol and smoking cessation:Reducing or eliminating alcohol use and smoking, which can worsen fibrosis and inflammation.Surgical interventions:In cases of obstructed ducts or pancreatic cancer, surgery may be necessary to remove parts of the pancreas or treat the underlying cause.Endoscopic treatment:Endoscopic procedures to treat ductal obstructions, pancreatic cysts, or stones.Stem cell and regenerative therapies:Research into regenerative treatments is ongoing, but stem cell therapy and pancreatic islet cell transplants show potential in improving pancreatic function.Supportive Care:Nutritional support through a high-calorie, low-fat diet may be recommended to counteract malnutrition. Vitamins and minerals may be supplemented.Addressing diabetes:If diabetes develops, insulin or other diabetes medications may be prescribed to manage blood sugar levels. Read more about Pancreatic Fibrosis Filter Alphabet P
Epilepsy Epilepsy Home Overview Epilepsy is chronic neurological disorder with recurrent seizures (altered electrical activity in the brain resulting in physical changes in behaviour and movement) or tendency to have recurrent seizures. This activity of the brain may be due to structural or genetic abnormality. Causes Genetic mutationsHead injuriesInfections (meningitis, encephalitis)Stroke or haemorrhageMass lesions in the brain Risk factors Age: Epilepsy is the most common in children and older adults. However, it can present at any age Family historyBrain injuriesVascular diseasesInfections and brain infectionsOther conditions like dementia, Alzheimer's disease, and certain genetic syndromes can increase the risk of epilepsyOther factors including sleep deprivation, hormonal changes, certain medications, and low blood sugar Symptoms Depends on the seizure type related with epilepsyAura, which is an abnormal sensation or feeling before the convulsions startBloating, nausea, visual phenomenon, olfactory hallucinations, or déjà vu, which means feeling that you have already experienced something which is happening for the first timeConvulsions, which are motor reflexes following aura with tonic posturing or jerky movements of the limbsConfusion or a feeling of disorientationRepetitive seizures may lead to cognitive impairment Types Generalized epilepsy (jerking of all the four limbs accompanied with unconsciousness)Focal seizures (affecting a single part of the brain)Temporal lobe epilepsyAbsence epilepsy Specialist to approach Neurologist Diagnosis HistoryEEG demonstrates specific epileptiform discharges, localized to a particular area in focal epilepsyIctal PET scan shows hypermetabolism of area from where seizure startsInterictal SPECT shows hypometabolism of the area Treatment Antiseizure medicationEpilepsy surgery can be contemplated, when the seizures tend to arise from a single focus in the brain repetitively and when they are poorly controlled even after using adequate doses of appropriately chosen medication for an adequate durationVagal nerve stimulation can be implemented based on the principle of stimulation of the vagus nerve in response to detection of generation of abnormal motor excitability of cortex. Stimulating the vagus nerve aborts the abnormal excitability of cortex before it spreads to the neighbouring areas; thereby terminating the seizureKetogenic dietLifestyle modification such as regular and adequate sleep, avoiding the use of stimulating medications, and using antiseizure medications helps to decrease the frequency of attacks Read more about Epilepsy Filter Alphabet E
Pancreatic Cyst Pancreatic Cyst Home Overview Pancreatic cyts are fluid-filled pouch-like structures that develop on/in the pancreas and may or may not be cancerous. Types Serous cystadenomas:Often benign (non-cancerous) fluid-filled cysts.Common in older adults (especially women).Typically asymptomatic.Mucinous cystadenomas:Can be benign but have potential to become cancerous (malignant).More common in women.Found in the body or tail of the pancreas.Intraductal papillary mucinous neoplasms (IPMNs):These are precancerous cysts that form in the pancreatic ducts.Can progress to pancreatic cancer if untreated.Often found in the head of the pancreas.Pseudocysts:Typically caused by pancreatitis (inflammation of the pancreas).Contain fluid and debris from the inflammation.Can be asymptomatic but may cause pain or infection.Cystic neuroendocrine tumours:Rare, typically slow-growing tumours that may have cystic areas.May be benign or malignant.Solid-pseudopapillary tumours:Rare and usually benign but can turn malignant.More common in young women. Causes Pancreatitis (inflammation of the pancreas): A key cause of pseudocysts.Genetic mutations: Inherited conditions like Von Hippel-Lindau disease or Gardner's syndrome may increase cyst formation.Chronic alcohol use: This can increase the risk of pancreatic inflammation and cyst formation.Cystic fibrosis: A genetic disorder that may contribute to pancreatic cyst development.Pancreatic cancer: In some cases, cysts can be an early sign of pancreatic cancer.Other underlying diseases: Certain conditions, like familial pancreatitis or conditions affecting pancreatic ducts, can predispose individuals to cyst formation. Risk factors Age: Risk increases with age, especially over 50.Gender: Some cysts, like mucinous cystadenomas, are more common in women.Chronic pancreatitis: Inflammation due to alcohol use or other factors can lead to pseudocysts.Genetic factors: Inherited conditions, including Von Hippel-Lindau disease or cystic fibrosis, can increase cyst risk.Family history: A family history of pancreatic cysts or pancreatic cancer increases the likelihood of developing cysts.Smoking: Smoking can increase the risk of pancreatic cysts, particularly those that are pre-cancerous. Symptoms Asymptomatic: Many pancreatic cysts do not cause symptoms, especially serous cysts or small cysts.Abdominal pain: Cysts, especially large ones, can cause discomfort or pain in the upper abdomen or back.Digestive issues: Nausea, vomiting, and bloating may occur if a cyst obstructs the pancreatic duct.Jaundice: If a cyst compresses the bile duct, it can cause jaundice.Weight loss: Unexplained weight loss can occur, especially with larger or malignant cysts.Pancreatitis symptoms: Fever, chills, and abdominal pain if cysts lead to infection or pancreatitis. Diagnosis Imaging tests:CT scan (computed tomography): Helps identify the presence, size, and location of cysts.MRI (magnetic resonance imaging): More detailed and can differentiate cyst types.Endoscopic ultrasound: Provides clear images and allows for biopsy in some cases.Endoscopic retrograde cholangiopancreatography (ERCP): Helps visualize the bile and pancreatic ducts; it may also help in draining cysts or taking biopsies.Biopsy: A tissue sample may be taken through a needle biopsy or during an endoscopic procedure to analyze the cyst's cells for cancerous changes.Cyst fluid analysis: Fluid obtained from the cyst may be analyzed for certain markers (like CEA or amylase) to assess the likelihood of malignancy. Treatment Observation: Small, asymptomatic cysts that do not show signs of malignancy may simply be monitored over time with regular imaging tests.Surgical removal: If the cyst is large, causing symptoms, or suspected to be cancerous, surgery may be recommended. Surgical options include:Cyst drainage: For pseudocysts, fluid may be drained.Pancreatic resection: Part of the pancreas may be removed to prevent cyst growth or cancer spread.Distal pancreatectomy: Removal of the tail or body of the pancreas, often used for mucinous cysts or IPMNs.Endoscopic drainage: For pseudocysts, endoscopic drainage may be used to remove fluid from the cyst using a flexible tube.Medication:Pain management and treatment of any underlying conditions like pancreatitis.Antibiotics if the cyst becomes infected.Chemotherapy or radiation: For malignant cysts or pancreatic cancer, chemotherapy, and radiation therapy may be necessary after surgical resection. Read more about Pancreatic Cyst Filter Alphabet P
Dystonia Dystonia Home Overview Dystonia is a neuromuscular condition characterized by abnormal abnormal posturing, turning or twisting movements of head, trunk, or limbs. Cause Exact cause is unknownDysfunction of basal gangliaGenetic factorsBrain injuries Risk factors Family historyStrokeBrain or nervous system injuryInfectionsCertain medications such as neurolepticsPoisoning (for e.g., lead)Involvement of precise hand movements, such as for musicians, artists, or engineers Symptoms Muscle spasms or crampsPostural deformitiesDifficulty in speaking, chewing, swallowing, walking, and writingAbnormal eye blinking/ contraction of faceBending of body Specialist to approach Neurologist Diagnosis ClinicalGenetic testingMRI Brain and PET scan for acquired and degenerative causes Dystonia types Based on the affected body partGeneralized dystonia (affects all or most body parts)Focal dystonia (affects one body part)- blepharospasm, cervical dystonia, oromandibular dystonia, truncal dystonia, and writer’s crampMultifocal dystonia (affects ≥2 unrelated body parts)Segmental dystonia (affects ≥2 adjacent body parts)Adult-onset dystonia is generally focal, whereas those beginning in childhood may become generalized.Based on the causeInherited- caused due to gene mutationAcquired- secondary to drug, brain injury, stroke, infection, metabolicIdiopathic- no clear causeBased on the symptomsDopa- responsive dystonia improves dramatically with dopamine supplementationMyoclonus dystoniaParoxysmal dystoniaTardive dystoniaFunctional dystonia Treatment Medications (anticholinergics, dopamine blockers)Botulinum toxin injections for focal dystoniaPhysical therapy and rehabilitationSurgery (deep brain stimulation)Lifestyle modification (stress management, regular exercises) Read more about Dystonia Filter Alphabet D
Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy (DMD) Home Overview DMD is a progressive genetic disorder presented by gradual muscle weakness. It is inherited in an X-linked recessive pattern, meaning that only the male members of the family manifest the disease while females are the carriers of the disease. Symptoms Starts in early childhood with progressive weakness of thigh muscles in first few years of life.Calf hypertrophyPatient become wheelchair bound by second decade of lifeSkeletal deformitiesShorter life span with death due to breathing difficulties and cardiomyopathyBecker’s muscular dystrophy is similar to DMD with similar inheritance but is less severe and less common. However, cardiomyopathy is more severe and cause of death in these patients Risk factors Family historyCarrier motherMale sexSpontaneous mutation in DMD gene Specialist to approach Neurologist Diagnosis Clinical history and examinationBlood tests to determine serum CPK and LDH levelElectromyography to determine myopathic potentialsGenetic analysisMRI of muscle groups affectedMuscle biopsy for dystrophinopathies Treatment Corticosteroids for delaying cardiomyopathy and preserving pulmonary functions.Physiotherapy and rehabilitationSupportive treatment by tracheostomy and medicines to improve cardiac function.Casimersen, viltolarsen, eteplirsen, givinostat, and golodirsen are under evaluation Read more about Duchenne Muscular Dystrophy (DMD) Filter Alphabet D