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What are the symptoms of MD?
04-30-2011, 11:45 PM
Post: #1
What are the symptoms of MD?
Muscle weakness is the common major symptom of all types of muscular dystrophies. However, the location of symptoms, age at which they begin, and how they progress vary. Symptoms for specific types are listed here in alphabetical order.
  • Becker muscular dystrophy (BMD): Symptoms are similar to DMD, but usually milder. Patients with BMD often can walk independently into their twenties or early thirties because the same pattern of leg weakness, unsteadiness, and permanent muscle tightening (contractures) occurs later with BMD. Symptoms may also include mild and slowly progressing scoliosis, heart muscle disease (cardiomyopathy), irregular heartbeats (arrhythmias), congestive heart failure, fatigue, shortness of breath, chest pain, and dizziness. Eventually, patients may need a ventilator to help with breathing because of respiratory weakness.
  • Congenital muscular dystrophy (CMD): Infants with CMD have severe muscle weakness from birth, with very little muscle tone and voluntary movement. Children with CMD, however, can eventually learn to walk, with or without the aid of an assisting device. CMD patients can live into young adulthood or beyond. Children with Fukuyama CMD are rarely able to walk, and have severe mental retardation. Most children with this type of CMD die in childhood.
  • Facioscapulohumeral muscular dystrophy (FSH): Symptoms of FSH are vary greatly. They most commonly begin in the teens or early twenties, but infant or childhood onset has been documented. Symptoms usually begin with difficulty lifting objects above the shoulders. The weakness in the shoulders causes scapular winging, where the shoulder blades stick out sharply from the back. Muscles in the upper arm often lose bulk sooner than the forearm. Symptoms related to facial weakness include loss of facial expression, difficulty closing the eyes completely, and the inability to drink with a straw, blow up a balloon, or whistle. Contracture of the calf muscles may cause frequent tripping over curbs or uneven areas. The earlier the onset of symptoms, the more likely the patient is to need a wheelchair for mobility. Children with FSH often develop partial or complete deafness.
  • Limb-girdle muscular dystrophy (LGMD): While there are many forms of LGMD, two major clinical forms are most commonly recognized. One is a severe childhood form that is similar in appearance to DMD. The second form appears in a person's teens or twenties. Symptoms include progressive weakness and loss of the muscles closest to the trunk. Leg contractures may occur. The patient usually loses the ability to walk about 20 years after the onset of symptoms. Some people with LGMD need to use a ventilator because of respiratory weakness. Lifespan may be slightly shortened.
  • Myotonic dystrophy: Symptoms of myotonic dystrophy include facial weakness and a slack jaw, drooping eyelids (ptosis), and muscle loss in the forearms and calves. Other symptoms may include difficulty relaxing the grasp, especially with cold objects; heart arrhythmias and block; constipation; cataracts; retinal degeneration; low IQ; frontal balding; skin disorders; atrophy of the testicles; sleep apnea; and insulin resistance. People with myotonic dystrophy usually experience low motivation and an increased need for sleep. Most sufferers are severely disabled within 20 years of the onset of symptoms, but do not require a wheelchair.
  • Distal muscular dystrophy (DD): Symptoms include weakness in the hands, forearms, and lower legs. At first, patients may notice difficulty with activities involve fine motor skills, such as tying shoes or fastening buttons. Symptoms progress slowly, and the disease usually does not affect life span.
  • Duchenne muscular dystrophy (DMD): Symptoms begin to show in pre-school boys. First, the legs are affected, causing walking difficulties and balance problems. As the disease progresses, the calves begin to swell with fibrous tissue rather than with muscle, and feel firm and rubbery. For this reason, DMD is also known as pseudohypertrophic muscular dystrophy. By age five or six, the child will have contractures (permanent muscle tightening), mostly in the calf muscles. This tightening pulls the foot down and back, so the child must walk on tip-toes. By age nine or ten, it becomes difficult to climb stairs or stand without help. By age 12, most boys use a wheelchair. Scoliosis (a side-to-side spine curvature) and (a front-to-back curvature) often appear at this time. DMD also causes diaphragm weakness, so it is difficult to breathe and cough. This affects the child’s energy level and increases lung infections. With the help of a ventilator, patients with DMD often live into their twenties and beyond. About one third of DMD patients have some learning disabilities that require individualized educational plans.
  • Emery-Dreifuss muscular dystrophy (EDMD): This type of muscular dystrophy usually begins with muscle contractures, and then progresses to muscle weakness that affects the shoulder and upper arm. The weakness then progresses to the calf muscles. Most men with EDMD can live into middle age. Another symptom of EDMD is a defect in the heart's rhythm (heart block), which is usually treated with a pacemaker.
  • Oculopharyngeal muscular dystrophy (OPMD): Symptoms of OPMD are confined to weakness in the muscles controlling the eyes and throat. Symptoms include drooping eyelids and difficulty swallowing (dysphagia). The weakness progresses to other muscles of the face and neck, and can occasionally affect the upper parts of the legs. Dysphagia can cause food or saliva to enter the airways, called “aspiration,” which can cause pneumonia.

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