Category Archives: Batten Disease Treatment

Your doctor will diagnose cardiomyopathy based on your medical and family histories, a physical exam, and the results from tests and procedures. Continue reading →

CardiomyopathyOpened left ventricle showing thickening, dilatation, and subendocardial fibrosis noticeable as increased whiteness of the inside of the heart.SpecialtyCardiologySymptomsShortness of breath, feeling tired, swelling of the legs[1]ComplicationsHeart failure, irregular heart beat, sudden cardiac death[1][2]TypesHypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, takotsubo cardiomyopathy[3]CausesUnknown, genetic, alcohol, heavy metals, amyloidosis, stress[3][4]TreatmentDepends on type and symptoms[5]Frequency2.5 million with myocarditis (2015)[6]Deaths354,000 with myocarditis (2015)[7] Cardiomyopathy is a group of diseases that affect the heart muscle.[8] Early on there may be few or no symptoms.[1] Some people may have shortness of breath, feel tired, or have swelling of the legs due to heart failure.[1] An irregular heart beat may occur as well as fainting.[1] Those affected are at an increased risk of sudden cardiac death.[2] Types of cardiomyopathy include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, and takotsubo cardiomyopathy (broken heart syndrome).[3] In hypertrophic cardiomyopathy the heart muscle enlarges and thickens.[3] In dilated cardiomyopathy the ventricles enlarge and weaken.[3] In restrictive cardiomyopathy the ventricle stiffens.[3] The cause is frequently unknown.[4] Hypertrophic cardiomyopathy usually is inherited, while dilated cardiomyopathy is inherited in a third of cases.[4] Dilated cardiomyopathy may also result from alcohol, heavy metals, coronary heart disease, cocaine use, and viral infections.[4] Restrictive cardiomyopathy may be caused by amyloidosis, hemochromatosis, and some cancer treatments.[4] Broken heart syndrome is caused by extreme emotional or physical stress.[3] Treatment depends on the type of cardiomyopathy and the severity of symptoms.[5] Treatments may include lifestyle changes, medications, or surgery.[5] In 2015 cardiomyopathy and myocarditis affected 2.5 million people.[6] Hypertrophic cardiomyopathy affects about 1 in 500 people while dilated cardiomyopathy affects 1 in 2,500.[3][9] They resulted in 354,000 deaths up from 294,000 in 1990.[7][10] Arrhythmogenic right ventricular dysplasia is more common in young people.[2] Symptoms of cardiomyopathies may include fatigue, swelling of the lower extremities and shortness of breath.[11] Further indications of the condition may include:[11] Cardiomyopathies are either confined to the heart or are part of a generalized systemic disorder, both often leading to cardiovascular death or progressive heart failure-related disability. Other diseases that cause heart muscle dysfunction are excluded, such as coronary artery disease, hypertension, or abnormalities of the heart valves.[12] Often, the underlying cause remains unknown, but in many cases the cause may identifiable.[13] Alcoholism, for example, has been identified as a cause of dilated cardiomyopathy, as has drug toxicity, and certain infections (including Hepatitis C).[14][15][16] Untreated celiac disease can cause cardiomyopathies, which can completely reverse with a timely diagnosis.[17] In addition to acquired causes, molecular biology and genetics have given rise to the recognition of various genetic causes.[15][18] A more clinical categorization of cardiomyopathy as 'hypertrophied', 'dilated', or 'restrictive',[19] has become difficult to maintain because some of the conditions could fulfill more than one of those three categories at any particular stage of their development. The current American Heart Association definition divides cardiomyopathies into primary, which affect the heart alone, and secondary, which are the result of illness affecting other parts of the body Continue reading →

Types of cardiomyopathy There are three main types of inherited cardiomyopathy: Another type of cardiomyopathy, Takotsubo cardiomyopathy, can be caused by extreme stress. This type is not passed on through families and often disappears in time. Continue reading →

A ventricle is one of two large chambers in the heart that collect and expel blood received from an atrium towards the peripheral beds within the body and lungs. The atrium (an adjacent/upper heart chamber that is smaller than a ventricle) primes the pump. Interventricular means between the ventricles (for example the interventricular septum), while intraventricular means within one ventricle (for example an intraventricular block). Continue reading →

Cerebral palsy is the name for a group of lifelong conditions that affect movement and co-ordination, caused by a problem with the brain that occurs before, during or soon after birth. The symptoms of cerebral palsy aren't usually obvious just after a baby is born. They normally become noticeable during the first two or three years of a child's life. Symptoms can include: The severity of symptoms can vary significantly. Some people only have minor problems, while othersmay beseverely disabled. Read more about thesymptoms of cerebral palsy. Speak to your health visitor or GP if you have any concerns about your child's health or development. Symptoms like those of cerebral palsycan have a number of different causes and aren't necessarily a sign of anything serious. Your child may be referred to specialists in child development who can do some checks and tests tosee if there is a problem. Read more abouttests for cerebral palsy. Cerebral palsy can occur ifa baby'sbrain doesn't develop normally while in the womb, or isdamaged during or soon after birth. Causes of cerebral palsy include: But in many cases,the exact cause isn't clear. Read more about the causes of cerebral palsy. There's currently no cure for … Continue reading →

In this Article In this Article In this Article Cerebral palsy is a disorder that affects your movement and muscle tone. The condition, also called CP, is caused by problems in the brain. CP breaks down into four main types, based on the movement involved: The most common kind is spastic CP. If you have it, your muscles are stiff or tight, or they spasm. Doctors break down spastic CP into three groups: If you have dyskinetic CP, your muscle tone might be too tight or too loose. Your movements are uncontrolled: either slow and twisting or quick and jerky. If the muscles in your face or mouth are affected, you might frown, drool and have trouble speaking. Dyskinetic CP breaks down further into these types: Ataxic CP, which is rare, causes problems with coordination and balance. If you have it, you might be unsteady when you walk. You might also shake, which could make it hard to do tasks that need steadiness, such as writing. People with this type of CP have symptoms of more than one type. Most people with mixed CP have a combination of spastic and dyskinetic. The biggest clue that your baby might have cerebral … Continue reading →

Cerebral palsyalso known as CPis a condition caused by injury to the parts of the brain that control our ability to use our muscles and bodies. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. Often the injury happens before birth, sometimes during delivery, or soon after being born. Physical symptoms typically appear in the first few years of life. Infants with cerebral palsy are frequently slow to reach developmental milestones such as learning to roll over, sit, crawl, smile, or walk. Cerebral palsy occurs in 1 in every 300 children (Source: Center for Disease Control). CP can be mild, moderate, or severe. Mild CP may mean a child is clumsy. Moderate CP may mean the child walks with a limp. He or she may need a special leg brace or a cane. More severe CP can affect all parts of a childs physical abilities. A child with moderate or severe CP may have to use a wheelchair and other special equipment. Sometimes children with CP can also have learning problems, speech, problems with hearing or seeing (called sensory problems), intellectual differences, and behavioral or emotional challenges. Cerebral palsy does not always … Continue reading →

Have you ever heard a family member talk about your first step or the first word you spoke? For kids with cerebral palsy, called CP for short, taking a first step or saying a first word may not be as easy. That's because CP is a condition that can affect the things that kids do every day. Some kids with CP use wheelchairs and others walk with the help of crutches or braces. In some cases, a kid's speech may be affected or the person might not be able to speak at all. Cerebral palsy (say: seh-REE-brel PAWL-zee) is a condition that affects thousands of babies and children each year. It is not contagious, which means you can't catch it from anyone who has it. The word cerebral means having to do with the brain. The word palsy means a weakness or problem in the way a person moves or positions his or her body. A kid with CP has trouble controlling the muscles of the body. Normally, the brain tells the rest of the body exactly what to do and when to do it. But because CP affects the brain, depending on what part of the brain is affected, … Continue reading →

Spastic cerebral palsy is the type of cerebral palsy wherein spasticity is the exclusive impairment present. Itself an umbrella term encompassing spastic hemiplegia, spastic diplegia, spastic quadriplegia and where solely one limb or one specific area of the body is affected spastic monoplegia. Spastic cerebral palsy affects the cerebral cortex[1] and is overwhelmingly the most common type of overall cerebral palsy. The Society for Cerebral Palsy in Europe (SCPE) estimates that the spasticity-only cerebral palsy classification sweeps in 90% of global cerebral palsy cases. But even if the 90% assertion is an exaggeration, more conservative scientific estimates still place the prevalence of spasticity-dominant or spasticity-only cerebral palsy at anywhere from 7080% of all cases, leaving cases dominated by ataxic cerebral palsy, dyskinetic cerebral palsy and athetoid cerebral palsy trailing at 2030%.[medical citation needed] People with the spastic/spasticity type of CP are hypertonici.e., they present with very stiff and tight muscle groups, far greater than typical humansand have what is essentially a neuromuscular mobility impairment (rather than hypotonia or paralysis) which stems from an upper motor neuron lesion in the brain. The corticospinal tract or the motor cortex may be secondarily affected. Spastic muscles are continuously contracting, or "tight", because the … Continue reading →

No single test can be used to diagnose cerebral palsydiagnosis involves understanding your childs medical history and identifying symptoms consistent with the condition. Diagnosing cerebral palsy as soon as possible ensures early intervention and a lifetime of excellent medical care. In some cases, cerebral palsy is diagnosed shortly after birth. Babies born prematurely or who have other significant risk factors are most likely to receive an early diagnosisoften via an MRI study that shows injury to the brain. A neurological exam with abnormal results also helps support an early diagnosis. With an early diagnosis, your baby might receive evaluations or consultations while still in a neonatal intensive care unit (NICU). Once your baby comes home from the hospital, regular visits with cerebral palsy specialists play an important role in maximizing your childs health and abilities. Most often, children receive a cerebral palsy diagnosis when they are age 1 to 3. Children diagnosed as a toddler usually have a birth and medical history that increases their risk of cerebral palsy. Symptoms at birth, however, might not be clear enough to warrant an early diagnosis. You might suspect cerebral palsy if your child misses milestones (such as sitting up or crawling) or … Continue reading →