Dwarfism

Dwarfism is a medical or genetic condition of short stature. The average height of an adult with dwarfism is 4 feet. There are two main types of dwarfism: disproportionate and proportionate. Disproportionate dwarfism is characterized by an average-size torso and shorter arms and legs or a shortened trunk with longer limbs. In proportionate dwarfism, the body parts are in proportion but shortened. 

Causes

There are more than 200 conditions that may cause dwarfism. Causes of proportionate dwarfism include metabolic and hormonal disorders (like hormone growth deficiency).

Skeletal dysplasias,the most common types of dwarfism, are genetic. They are conditions of abnormal bone growth that cause disproportionate dwarfism.  

They include:

Achondroplasia. This is the most common form of dwarfism, and is evident at birth. Achondroplasia occurs in about one out of 26,000 to 40,000 babies. People with this condition have a long trunk and shortened upper arms and upper legs. Other features of achondroplasia include:

• a large head with a prominent forehead
• a flattened nose bridge
• protruding jaw
• crowded and crooked teeth
• lower spine curved forward
• bowed legs
• short, flat, broad feet
• double-jointed

Spondyloepiphyseal dysplasias (SED). Is a less common form of dwarfism. It affects approximately one in 95,000 babies. SED is a group of conditions that cause a shortened trunk (which may no-show until a child is between 5 and 10 years old). Other features can include:

• club feet
• cleft palate
• severe hip osteoarthritis
• weak hands and feet
• barrel-chested appearance

Diastrophic dysplasia. A rare form of dwarfism, diastrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have mesomelic shortening, which means they have shortened forearms and calves.

Other signs can include:

• deformed hands and feet
• limited range of motion
• cleft palate
• cauliflower appearance of the ears   

Dwarfism Genetics

Skeletal dysplasia is caused by a genetic mutation that can be spontaneous or inherited.

Diastrophic dysplasia and spondyloepiphyseal dysplasias are inherited in a recessive manner (child must receive a copy of the mutated gene from the mother, and a copy from the father to be affected).  

Achondroplasia is inherited in a dominant manner (only needs one copy). There is a 25% chance that a child born to a couple in which both members have achondroplasia will be of normal height. But there is also a 25% chance the child will inherit both dwarfism genes (double-dominant syndrome). This is a fatal condition that usually results in a miscarrige. 

Many times, parents of children with achondroplasia do not carry the mutated gene; the mutation occurs randomly during conception.

Diagnosis
 Dwarfism of any of there types can be diagnosed through genetic testing. Sometimes, prenatal testing is done if there is concern for certain conditions.

Some signs/ symptoms are:

• late development of some motor skills, like sitting or walking

 ear infections

• breathing problems
• weight problems

spine curvature

• bowed legs
• joint stiffness and arthritis
• lower backpain or leg numbness
• teeth crowding

Dwarfism Treatments

Early diagnosis and treatment can help prevent some problems that come with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. 

Other treatment may include:

• Physical therapy to stretch joints and strengthen muscles
• Back braces

Draining tubes in the middle ear.

• Orthodontic treatment to fix teeth crowding
• exercise

Many times, people with dwarfism have orthopaedic or medical complications, so they need more/other treatments.




 source: http://www.webmd.com/children/dwarfism-causes-treatments

Muscular Dystrophy

Muscular dystrophy (MD) is a group of diseases that are inherited from parents, and that affects the voluntary muscles (the ones that control movement), as well as other organs in the body. MD can appear at different ages, and goes from mild to severe. The severity is determined in part by the age when it occurs. MD is progressive and some people die young. Nine major forms of muscular dystrophy:
 • MMD, Myotonic, or Steinert's disease.
o Most common form in adults.
o Rarely appears in newborns (congenital MMD).
 o Symptom is a prolonged stiffening of muscles after use, being worse in cold temperatures.
o It causes muscle weakness and affects the central nervous system, heart, gastrointestinal tract, eyes, and hormone-producing glands.
o Short life expectancy.
 • Duchenne.
 o Most common form in children.
 o Affects only males.
o It appears between 2 and 6 years old.
o Muscles decrease in size and get weaker (over time they may appear larger).
o Progression can be different, but 1 in 3,500 will need a wheelchair by age 12.
o Very often, the arms, legs, and spine become progressively deformed.
o There may be some cognitive impairment.
o When very advanced, people develop severe breathing and heart problems.
o People die young.
 • Becker.
 o This form is similar to Duchenne MD, but much milder.
o Symptoms appear later and progress more slowly.
 o It affects only males in a ratio of 1 in 30,000.
 o Causes heart problems.
o Severity varies.
o Can reach their 30s and live further into adulthood.
 • Limb-girdle.
o Appears in the teens to early adulthood.
 o Affects males and females.
 o Causes progressive weakness in the hips and extends to legs, arms, and shoulders.
o Around 20 years in the disease it affects walking to the point of paralysis.
o Affected people may live to middle age, and late adulthood.
• Facioscapulohumeral.
o Refers to the muscles that move the face, shoulder blade, and upper arm bone.
 o Appears from the teen years to early adulthood.
o Affects males and females.
 o Progresses slowly, with short periods of rapid muscle deterioration and weakness.
o Severity ranges from mild to disabling.
o Walking, chewing, swallowing, and speaking problems may occur.
o About 50% of those with this disease can walk and go with their lives.
o Most live a normal life span.
• Congenital MD.
o Means present at birth.
 o Progress slowly and affect males and females.
 o Two forms identified -- Fukuyama and Congenital MD with Myosin deficiency –
 o Cause muscle weakness at birth or in the first few months of life.
 o Causes severe and early shrinking of muscles that will cause joint problems.
o Fukuyama Congenital MD causes abnormalities in the brain and often seizures.
• Oculopharyngeal.
 o Means eye and throat (Muscles affected).
 o This form appears in men and women in their 40s, 50s, and 60s.
o Progresses slowly, causing weakness in the eye and face muscles, which may lead to difficulty swallowing.
 o Weakness in pelvic and shoulder muscles may occur later.
 o Choking and recurrent pneumonia may occur.
 • Distal.
 o Affects adults.
 o Causes weakness and wasting of the distal muscles of the forearms, hands, lower legs, and feet.
o It is less severe, progresses more slowly, and affects fewer muscles than other forms of muscular dystrophy.
• Emery-Dreifuss.
o This is a rare form of MD.
o Appears from childhood to the early teens.
o Affects only males.
o Causes muscle weakness and wasting in the shoulders, upper arms, and lower legs, and can spread to chest and pelvic muscles.
o Heart problems are common; they are life threatening.
 o Muscle shortening (contractures) occurs early in the disease.
o It progresses slowly and causes less severe weakness than other forms of MD.