Spinal muscular atrophy type 2 (SMA II) is an inherited condition that affects the muscles. It is characterized primarily by progressive muscle weakness that develops in children between ages 6 and 12 months. Affected children can sit without support; however, they cannot stand or walk unaided. Other signs and symptoms may include a tremor of the fingers, breathing issues, feeding difficulties and skeletal abnormalities (such as scoliosis and hip dislocation). SMA II is caused by mutations in the SMN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the symptoms in each person.

Symptoms:

The signs and symptoms of spinal muscular atrophy type 2 (SMA II) typically become apparent between 6 and 12 months of age. Poor muscle tone may be noticed at birth or within the first few months of life. Affected children may initially slowly gain some motor milestones. However, the highest motor milestone attained is generally the ability to sit independently, and this milestone is often lost by the mid-teens. People with SMA II are not able to stand or walk unaided. Other signs and symptoms may include a tremor of the fingers, breathing issues, feeding difficulties and skeletal abnormalities (such as scoliosis and hip dislocation).

Causes:

Spinal muscular atrophy type 2 (SMA II) is caused by changes (mutations) in the SMN1 gene. Extra copies of the SMN2 gene affect how severe the condition is. These genes encode a protein that is important for the normal functioning of certain nerve cells (called motor neurons) which help control muscle movements. Mutations in the SMN1 gene lead to reduced levels of this protein and the death of motor neurons. This in turn causes the characteristic signs and symptoms associated with SMA II.

The protein made by additional copies of SMN2 can compensate for some of the protein lost due to mutations in SMN1. Affected people who have extra copies of SMN2 may, therefore, have milder symptoms and develop the condition later in life.

Diagnosis:

A diagnosis of spinal muscular atrophy (SMA) is first suspected based on the presence of characteristic signs and symptoms. Identifying mutations in the SMN1 gene confirms the diagnosis.^[1]

Classifying the type of SMA is based on the age of onset and the maximum function attained. Classisfying SMA as type 2 is based on:

• onset of muscle weakness usually after age six months; ability to sit independently achieved when placed in a sitting position
• finger trembling – almost invariably present
• low muscle tone (flaccidity)
• absence of tendon reflexes in approximately 70% of individuals
• average intellectual skills during the formative years and above average by adolescence

The treatment of spinal muscular atrophy type 2 (SMA II) is based on the symptoms present. Physical therapy, occupational therapy and assistive devices (walkers, wheelchairs, etc) are generally recommended to help encourage maximum mobility and independence. These interventions may also prevent or delay scoliosis and abnormal contractions of the muscles and tendons. Some children with SMA II may have difficulty eating enough calories to maintain a normal weight. In these cases, nutritional counseling and/or a feeding tube may become necessary. Breathing problems are also common in people affected by SMA II and may require the use of BiPAP machines or other methods of respiratory support. Some affected children may require surgery to treat scoliosis or severe cases of hip dislocation.

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Alexander Disease is a rare pathological condition of the nervous system which is actually a collection of a group of disorders known as leukodystrophy in which there is massive destruction of myelin. Myelin is a fatty covering that acts as an insulator for nerve fibers and facilitates transmission of nerve impulses from the brain to various parts of the body. When there is destruction of myelin this transmission of nerve impulses becomes impaired leading to various complications like a complete impaired nervous system which means that the affected patient is virtually disabled and not in a condition to perform any activities voluntarily.

In majority of cases, Alexander Disease begins by the time a child reaches 2 years of age. This is called as infantile form of Alexander Disease. The symptoms for this include an enlarged brain and head size, frequent seizures, spasticity of the extremities, intellectual disability, and developmental delays. In some cases, Alexander Disease strikes when the child is a bit older. This is called juvenile form of Alexander Disease and is quite rare. In extremely rare cases, Alexander Disease develops in adults as well.
Another characteristic of Alexander Disease is abundant deposition of abnormal proteins which are called as Rosenthal fibers. These deposits are mostly found in astroglial cells in the brain, the function of which is to support other cells in the brain and spinal cord.

In most of the cases, Alexander Disease is not inherited which means that the child suffering from Alexander Disease has not got it from his or her parents even though the parent may have a defective gene in them. The root cause of Alexander Disease is noted to be a defect in gene called Glial Fibrillary Acidic Protein or GFAP. This is a protein which is involved in structural development of cells and a mutation in this gene is responsible for the development of Alexander Disease.

The symptoms of Alexander Disease are variable and depend on when the condition develops meaning whether the condition develops in infantile, juvenile, or adult onset. The severity of the symptoms may vary depending on the extent of the disease and how much the disease has spread.

Symptoms of infantile form of Alexander Disease are:

• Megalencephaly: This is a condition in which the child will have an abnormally large brain and head size.
• Hydrocephaly: In this condition, water is accumulated in the brain which puts excessive pressure on the brain causing developmental defects.
• Failure to Thrive: The child does not meet the developmental milestones on time.
• Persistent Seizures
• Spasticity: Child will have involuntary contractions of the muscles.
• Progressive Psychomotor Retardation: In this, the child will have difficulty with performing basic tasks like walking, speaking, or performing any basic activity independently.

The symptoms of Juvenile form of Alexander Disease are:

• Problems with speech
• Difficulty swallowing
• Problems with coughing
• Spasticity of the muscles, especially the lower extremities
• Difficulty walking.

The symptoms of adult-onset Alexander Disease are:

• Ataxia
• Problems with speech
• Difficulty swallowing
• Problems with sleep.
• Adult onset Alexander Disease is the rarest form of the disorder.

If Alexander Disease is suspected based on the signs and symptoms shown by the patient, a simple genetic testing is enough to confirm Alexander Disease as the defective gene causing this condition is well known and can be easily identified on genetic testing and can confirm the diagnosis of Alexander Disease.

Unfortunately, there is no cure for Alexander Disease as of yet. The treatment for Alexander Disease is basically symptomatic and supportive. Certain conditions like seizures and hydrocephaly can be treated. Seizures can be controlled with antiepileptic medications while hydrocephaly can be treated with surgery to drain water from the brain and thus relieve the pressure put on the brain by the water accumulated inside it. On an experimental basis, bone marrow transplantation has been tried as a treatment for Alexander Disease but it has not been found to be much successful.

The life expectancy of a patient with Alexander Disease depends on the onset of the condition. Children with infantile Alexander Disease may not live beyond one to two years of life and even if they do, they can go up to maximum of 10 years. Children with juvenile form of Alexander Disease tend to live up to middle age after the diagnosis of Alexander Disease.

Most of us take our sense of smell for granted. But have you ever thought about what it would be like to not be able to smell something? The complete loss of smell is called anosmia (an-OHZ-me-uh). Without your sense of smell, food tastes different, you can’t smell the scent of a flower, and you could find yourself in a dangerous situation, unknowingly. For example, without the ability to detect odors, you wouldn’t smell a gas leak, smoke from a fire, or sour milk.

Fortunately, for most people, anosmia is a temporary nuisance caused by a severely stuffy nose from a cold. Once the cold runs its course, a person’s sense of smell returns.

But for some people, including many elderly, the loss of a sense of smell may persist. In addition, anosmia can be a sign of a more serious medical condition. Any ongoing problems with smell should be checked out by a doctor.

A person’s sense of smell is driven by certain processes. First, a molecule released from a substance (such as fragrance from a flower) must stimulate special nerve cells (called olfactory cells) found high up in the nose. These nerve cells then send information to the brain, where the specific smell is identified. Anything that interferes with these processes, such as nasal congestion, nasal blockage, or damage to the nerve cells themselves, can lead to loss of smell.

The ability to smell also affects our ability to taste. Without the sense of smell, our taste buds can only detect a few flavors, and this can affect your quality of life.

Nasal congestion from a cold, allergy, sinus infection, or poor air quality is the most common cause of anosmia. Other anosmia causes include:

• Nasal polyps — small noncancerous growths in the nose and sinusesthat block the nasal passage.
• Injury to the nose and smell nerves from surgery or head trauma.
• Exposure to toxic chemicals, such as pesticides or solvents.
• Certain medications, including antibiotics, antidepressants, anti-inflammatory medication, heart medications, and others.
• Cocaine abuse.
• Old age. Like vision and hearing, your sense of smell can become weaker as you age. In fact, one’s sense of smell is most keen between the ages of 30 and 60 and begins to decline after age 60.
• Certain medical conditions, such as Alzheimer’s disease, Parkinson’s disease, multiple sclerosis, nutritional deficiencies, congenital conditions, and hormonal disturbances.
• Radiation treatment of head and neck cancers.

The obvious sign of anosmia is a loss of smell. Some people with anosmia notice a change in the way things smell. For example, familiar things begin to lack odor.

If nasal congestion from a cold or allergy is the cause of anosmia, treatment is usually not needed, and the problem will get better on its own. Short-term use of over-the-counter decongestants may open up your nasal passages so that you can breathe easier. However, if the congestion gets worse or does not go away after a few days, see your doctor. You may have an infection and need antibiotics, or another medical condition may be to blame.

Dermatomyositis is a rare inflammatory disease. Common symptoms of dermatomyositis include a distinctive skin rash, muscle weakness, and inflammatory myopathy, or inflamed muscles. It’s one of only three known inflammatory myopathies. Dermatomyositis can affect both adults and children. There’s no cure for this condition, but symptoms can be managed.

Causes:

Lactose intolerancemeans the body cannot easily digest lactose, a type of natural sugar found in milk and dairy products. This is not the same thing as a food allergy to milk.

When lactose moves through the large intestine (colon) without being properly digested, it can cause uncomfortable symptoms such as gas, belly pain, and bloating. Some people who have lactose intolerance cannot digest any milk products. Others can eat or drink small amounts of milk products or certain types of milk products without problems.

Lactose intolerance is common in adults. It occurs more often in Native Americans and people of Asian, African, and South American descent than among people of European descent.

A big challenge for people who are lactose-intolerant is learning how to eat to avoid discomfort and to get enough calcium for healthy bones.

Lactose intolerance occurs when the small intestine  does not make enough of an enzyme called lactase. Your body needs lactase to break down, or digest, lactose.

Lactose intolerance most commonly runs in families, and symptoms usually develop during the teen or adult years. Most people with this type of lactose intolerance can eat some milk or dairy products without problems.

Sometimes the small intestine stops making lactase after a short-term illness such as the stomach flu or as part of a lifelong disease such as cystic fibrosis. Or the small intestine sometimes stops making lactase after surgery to remove a part of the small intestine. In these cases, the problem can be either permanent or temporary.

In rare cases, newborns are lactose-intolerant. A person born with lactose intolerance cannot eat or drink anything with lactose.

Some premature babies have temporary lactose intolerance because they are not yet able to make lactase. After a baby begins to make lactase, the condition typically goes away.

Symptoms of lactose intolerance can be mild to severe, depending on how much lactase your body makes. Symptoms usually begin 30 minutes to 2 hours after you eat or drink milk products. If you have lactose intolerance, your symptoms may include:

• Bloating.
• Pain or cramps.
• Gurgling or rumbling sounds in your belly.
• Gas.
• Loose stools or diarrhea.
• Throwing up.

Many people who have gas, belly pain, bloating, and diarrhea suspect they may be lactose-intolerant. The best way to check this is to avoid eating all milk and dairy products to see if your symptoms go away. If they do, then you can try adding small amounts of milk products to see if your symptoms come back.

If you feel sick after drinking a glass of milk one time, you probably do not have lactose intolerance. But if you feel sick every time you have milk, ice cream, or another dairy product, you may have lactose intolerance.

Sometimes people who have never had problems with milk or dairy products suddenly have lactose intolerance. This is more common as you get older.

If you think you might have lactose intolerance, talk with your doctor. He or she can make sure that your symptoms are caused by lactose intolerance and not by another problem.

There is no cure for lactose intolerance. But you can treat your symptoms by limiting or avoiding milk products. Some people use milk with reduced lactose, or they substitute soy milk and soy cheese for milk and milk products. Some people who are lactose-intolerant can eat yogurt without problems, especially yogurt with live cultures. You can also take dietary supplements called lactase products that help digest lactose. In time, most people who have lactose intolerance get to know their bodies well enough to avoid symptoms.

One of the biggest concerns for people who are lactose-intolerant is making sure they get enough of the nutrients found in milk products, especially calcium. Calcium is most important for children, teens, pregnant women, and women after menopause. There are many nondairy foods that contain calcium, including:

• Broccoli, okra, kale, collards, and turnip greens.
• Canned sardines, tuna, and salmon.
• Calcium-fortified juices and cereals.
• Calcium-fortified soy products such as soy milk, tofu, and soybeans.
• Almonds.

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