Spinal muscular atrophy (SMA) most often affects babies and children and makes it hard for them to use their muscles. When your child has SMA, there’s a breakdown of the nerve cells in the brain and spinal cord. The brain stops sending messages that control muscle movement.

When that happens, your child’s muscles get weak and shrink, and he can have trouble controlling head movement, sitting without help, and even walking. In some cases, he can have trouble swallowing and breathing as the disease progresses.

Woman with muscular atrophy

Diagnosis

SMA can sometimes be hard to diagnose because the symptoms may be similar to other conditions. To help figure out what’s going on, your doctor may ask you:

• Has your baby missed any developmental milestones, such as holding his head up or rolling over?
• Does your child have trouble sitting or standing on his own?
• Have you seen your child have trouble breathing?
• When did you first notice the symptoms?
• Has anyone in your family had similar symptoms?

Treatment

The FDA has approved one medication to treat SMA: nusinersen (Spinraza). Studies show it helps about 40% of people who use it by slowing down the advance of the disease and making people stronger.

Doctors inject nusinersen into the fluid around your child’s spinal cord. The procedure for the shot-including preparation and recovery time — can take at least 2 hours. Your child will need multiple shots.

Nusinersen is a type of gene therapy. It belongs to a group of drugs called antisense oligonucleotides that have small bits of man-made genetic material. They work by “modulating,” or adjusting, the SMN2 gene.

Everyone who has spinal muscular atrophy has at least one copy of the SMN2 gene, and some people have more. The SMN2 gene isn’t doing a good job of making a key protein that allows the cells that control muscles to work. Adjusting this gene can let it make more protein or a better-quality protein.

Besides adjusting the SMN2 gene, researchers are studying another type of gene therapy that involves replacing or correcting the SMN1 gene. Since spinal muscular atrophy is caused by a mutation — or change — in the SMN1 gene, doctors are checking to see if replacing or fixing it will treat the disease.

Vesicoureteral reflux is the abnormal flow of urine from your bladder back up the tubes that connect your kidneys to your bladder. Normally, urine flows only down from your kidneys to your bladder. Vesicoureteral reflux is usually diagnosed in infants and children. The disorder increases the risk of urinary tract infections, which, if left untreated, can lead to kidney damage.

Risk factors :

• Bladder and bowel dysfunction (BBD). Children with BBD hold their urine and stool and experience recurrent urinary tract infections, which can contribute to vesicoureteral reflux.
• Race. White children appear to have a higher risk of vesicoureteral reflux.
• Sex. Generally, girls have about double the risk of having this condition as boys do. The exception is for vesicoureteral reflux that’s present at birth, which is more common in boys.
• Age. Infants and children up to age 2 are more likely to have vesicoureteral reflux than older children are.
• Family history. Primary vesicoureteral reflux tends to run in families. Children whose parents had the condition are at higher risk of developing it.

Kidney damage is the primary concern with vesicoureteral reflux. The more severe the reflux, the more serious the complications are likely to be.

Complications :

• Kidney scarring. 
• High blood pressure
• Kidney failure

Treatment depends on the severity of the condition. In mild cases, no treatment is necessary. Moderate to severe cases may be treated with antibiotic medicines to prevent infection. In cases where kids have infections and fevers along with the VUR, surgery may be needed.

to know more details:- send in your queries to query@gtsmeditour.com or WhatsApp your latest medical reports to +91-9880149003.

Diabetic neuropathy is a serious and common complication of type 1 and type 2 diabetes. It’s a type of nerve damage caused by uncontrolled high blood sugar levels. You may not initially have any symptoms. The condition usually develops slowly, sometimes over the course of several decades.

Types of diabetic neuropathy include the following:

• Peripheral neuropathy
• Autonomic neuropathy
• Focal neuropathies
• Proximal neuropathy

If you have diabetes, your chance of developing nerve damage caused by diabetes increases the older you get and the longer you have diabetes. Managing your diabetes is an important part of preventing health problems such as diabetic neuropathy.

Your symptoms depend on which type of diabetic neuropathy you have. In peripheral neuropathy, some people may have a loss of sensation in their feet, while others may have burning or shooting pain in their lower legs. Most nerve damage develops over many years, and some people may not notice symptoms of mild nerve damage for a long time. In some people, severe pain begins suddenly.

Foot care is very important for all people with diabetes, and it’s even more important if you have peripheral neuropathy. Check your feet for problems every day, and take good care of your feet. See your doctor for a neurological exam and a foot exam at least once a year and more often if you have foot problems.

to know more details:- send in your queries to query@gtsmeditour.com or WhatsApp your latest medical reports to +91-9880149003.

Bipolar disorder is a medical condition that involves rapid mood swings between periods of good moods and those of irritability and depression. The condition is experienced equally by both men and women and generally manifests itself for the first time when the individual is between the ages of 15 and 25.

Symptoms

• feeling overly happy or “high” for long periods of time
• having a decreased need for sleep
• talking very fast, often with racing thoughts
• feeling extremely restless or impulsive
• becoming easily distracted
• having overconfidence in your abilities
• engaging in risky behavior, such as having impulsive sex, gambling with life savings, or going on big spending sprees

Diagnosis

Diagnosing bipolar disorder requires extensive testing. A physician testing for the disorder will ask about the patient’s family history, looking for anyone else in the family who has the disorder. The physician will also ask about any mood swings experienced recently, and take a history of the mood swings including when they began. After medical questioning, the doctor will provide a thorough physical exam to determine if there is any other illness that may be causing the symptoms of the disorder.

Treatment 

Treatment of bipolar disorder is aimed at stabilizing the patient’s mood as much as possible. With treatment, that the patient may avoid hospital stays, have a lowered desire to self-injure and function better in all of the phases of the condition. During treatment, a physician will try to determine the triggers of the mood swings and provide the patient with exercises to complete when these triggering events occur. These exercises may help prevent the moods or lower their severity. Those patients experiencing severe symptoms may require hospitalization while the mood is stabilized. This may be necessary for either the manic or depressive stages of the disorder.

Those on medication who experience positive results often stop taking the medication, mistaking it for a cure rather than an ongoing stabilizing treatment. Patients may also stop taking medication if they miss the feelings of mania. If the medication is stopped, the symptoms of the disorder often return. Stopping medication may also lead to an even higher chance of drug or alcohol abuse, an increase in suicidal thoughts and extreme judgment issues.

Peripheral vascular disease is a blood circulation disorder that causes the blood vessels outside of your heart and brain to narrow, block, or spasm. This can happen in your arteries or veins. PVD typically causes pain and fatigue, often in your legs, and especially during exercise. The pain usually improves with rest.

Peripheral arterial disease (PAD) develops only in the arteries, which carry oxygen-rich blood away from the heart.

Types:

The two main types of PVD are functional and organic PVD. Functional PVD means there’s no physical damage to your blood vessels’ structure. Instead, your vessels widen and narrow in response other factors like brain signals and temperature changes. The narrowing causes blood flow to decrease. The most common causes of functional PVD are emotional stress, cold temperatures, operating vibrating machinery or tools etc

Organic PVD involves changes in blood vessel structure like inflammation, plaques, and tissue damage. The primary causes of organic PVD are, smoking, high blood pressure, diabetes, high cholesterol etc.Additional causes of organic PVD include extreme injuries, muscles or ligaments with abnormal structures, blood vessel inflammation, and infection.

 Risk factors

• over age 50
• overweight
•  abnormal cholesterol
•  history of cerebrovascular disease or stroke
• have heart disease
• have diabetes
• have a family history of high cholesterol, high blood pressure, or PVD
• have high blood pressure
• have kidney disease

complications

• tissue death, which can lead to limb amputation
• impotence
• pale skin
• pain at rest and with movement
• severe pain that restricts mobility
• wounds that don’t heal
• life-threatening infections of the bones and blood stream

Early diagnosis is the first step to successful treatment and it can prevent life-threatening complications.

The rectum is part of the digestive tract. Cancer that originates in the colon or rectum may be called rectal cancer, colon cancer, or colorectal cancer. Because treatment and progression of colon cancer and rectal cancer may be different, they are often reported separately.

Tests used to help detect cancer at an early stage and help improve the outcome are called screening tests. Colorectal cancer screening tests include digital rectal examination (DRE), proctoscopy, colonoscopy, and stool occult blood testing. Beginning at the age of 50, a colonoscopy and annual DRE and occult blood testing should be performed. Younger patients who should undergo colorectal cancer screening include those under the age of 50 with a family history of colon cancer, and patients with a history of rectal or gynecologic cancer or ulcerative colitis.

In general, rectal and rectosigmoid cancer  are more likely than other colon cancers to produce symptoms prior to diagnosis. These cancers often cause bleeding that can be observed. Other signs and symptoms include a change in bowel activity, unexplained constipation or a reduction in stool caliber, urgency, and inadequate emptying of the bowels. With advanced tumors, urinary symptoms or buttock pain may occur. These symptoms usually lead to an evaluation of the colorectal area.

Digital rectal examination  may be used as an initial screening examination; however, tumors located more than 7 centimeters from the anal verge may be missed during this examination. Additional studies include barium enema, usually with flexible sigmoidoscopy and/or colonoscopy used as a complementary procedure.If a tumor is discovered by any of the above procedures, a biopsy should be performed.

to know more details:- send n your queries to query@gtsmeditour.com or WhatsApp your latest medical reports to +91-9880149003