Signs and symptoms :

 Progressive muscular wasting

 Poor balance
 Frequent falls
 Walking difficulty
 Waddling gait
 Calf deformation
 Limited range of movement
 Respiratory difficulty
 Drooping eyelids
 Gonadal
 Loss of bladder control
 Scoliosis (curvature of the spine and the back)
 Inability to walk

Few or none of these symptoms may be present before diagnosis. Some types of muscular
dystrophy can affect the heart, causing cardiomyopathy or arrhythmias.

Symptoms vary with the different types of muscular dystrophy.

All of the muscles may be affected. Or, only specific groups of muscles may be affected, such
as those around the pelvis, shoulder, or face. Muscular dystrophy can affect adults, but the
more severe forms tend to occur in early childhood.

Symptoms include:

 Mental retardation (only present in some types of the condition)

 Muscle weakness that slowly gets worse
o Delayed development of muscle motor skills
o Difficulty using one or more muscle groups
o DroolingDrooling
o Eyelid droopingEyelid drooping (ptosisptosis)
o Frequent falls
o Loss of strength in a muscle or group of muscles as an adult
o Loss in muscle size
o Problems walkingProblems walking (delayed walking)

Diagnostics:

ince the early 2000s genetic testing that measures the size of the D4Z4 deletions on 4q35 has
become the preferred mechanism for confirming the presence of FSHD. As of 2007, this test is
considered highly accurate but is still performed by a limited set of labs in the US, such as
Athena diagnostics under test code 405. However, because the test is expensive, patients and
doctors may still rely on one or more of the following tests, all of which are far less accurate and
specific than the genetic test:[14]
  Creatine kinase (CK) level: This test measures the Creatine kinase enzyme in the blood.
Elevated levels of CK are related to muscle atrophy.
 electromyogram (EMG): This test measures the electrical activity in the muscle
 nerve conduction velocity (NCV): This test measures the how fast signals travel from
one part of a nerve to another. The nerve signals are measured with surface electrodes
(similar to those used for an electrocardiogram), and the test is only slightly
uncomfortable.
 muscle biopsy: Through outpatient surgery a small piece of muscle is removed (usually
from the arm or leg) and evaluated with a variety of biochemical tests. Researchers are
attempting to match results of muscle biopsies with DNA tests to better understand how
variations in the genome present themselves in tissue anomalies.

A physical examination and your medical history will help the doctor determine the type of
muscular dystrophy. Specific muscle groups are affected by different types of muscular
dystrophy.

The doctor's exam may show:

 Abnormally curved spine (scoliosisscoliosis)

 Joint contractures (clubfootclubfoot, clawhand, or others)
 Low muscle tone (hypotoniahypotonia)

Some types of muscular dystrophy involve the heart muscle, causing

cardiomyopathycardiomyopathy or disturbed heart rhythm (arrhythmiasarrhythmias).

Often, there is a loss of muscle mass (wastingwasting), which may be hard to see because
some types of muscular dystrophy cause a build-up of fat and connective tissue that makes the
muscle appear larger. This is called pseudohypertrophy.

A muscle biopsymuscle biopsy may be used to confirm the diagnosis. In some cases, a DNA
blood test may be all that is needed.

Other tests may include:

 Heart testing - electrocardiography (ECG)

 Nerve testing - electromyography (EMGEMG)
 Blood testing - including CPKCPK level
 Genetic testing for some forms of muscular dystrophy

This disease may also alter the results of the following tests:

 AldolaseAldolase
 ASTAST
 CreatinineCreatinine
 LDHLDH
 Myoglobin - urine and blood