1. Duchenne Muscular Dystrophy


The age of onset is usually between 2 and 5 years.


Common symptoms of Duchenne muscular dystrophy include:


• Impairment of balance, resulting in frequent falls


• Enlargement calf muscles (pseudohypertrophy)


• Gowers' sign


• Difficulty walking, running and jumping, due to weak leg muscles


• Waddling gait


• Scoliosis (curved back)


• Increased creatinine phosphokinase levels


• Muscle contractures of achilles tendon and hamstrings impair functionality because the muscle fibers shorten and fibrosis occurs in connective tissue.


• Muscle wasting begins in the legs and pelvis, then progresses to the muscles of the shoulders and neck, followed by loss of arm muscles and respiratory muscles.


• Cardiomyopathy is common, but the development of congestive heart failure or arrhythmias (irregular heartbeats) is only occasional.


• Most deaths occur due to pneumonia, diaphragm muscle weakness or cardiac complications.


2. Becker Muscular Dystrophy


The symptoms of BMD usually appear in late childhood to early adulthood. Though the progression of symptoms may parallel that of DMD, the symptoms are usually milder and the course more variable.


Common symptoms of Becker muscular dystrophy include:


• Leg weakness, unsteadiness, and contractures.


• Waddling Gait


• Pseudohypertrophy


• Scoliosis may occur, but is usually milder and progresses more slowly.


• Heart muscle disease (cardiomyopathy), occurs more commonly in BMD. Problems may include irregular heartbeats (arrhythmias) and congestive heart failure.


• Respiratory weakness also occurs, leading to the need for mechanical ventilation.


3. Limb-Girdle Muscular Dystrophy


Each type of LGMD has a different range of symptoms. The symptoms can even vary between individuals with the same type of LGMD. The age of onset of symptoms can occur from infancy to adulthood.


The most common symptoms of LGMD are:


• Muscle weakness and deterioration involving the muscles around the hips and shoulders.


• Waddling gait due to weakness of the hip and leg muscles.


• Difficulties in rising from a chair and difficulties in climbing stairs are common.


• Eventually, walking may become impossible and lead to resorting to a wheelchair.


• Enlargement or a decrease in size of the calf muscles can also be seen.


• Some individuals with LGMD also experience contractures and muscle cramps.


• The limited mobility associated with LGMD can result in muscle soreness and joint pain.


• Lifting heavy objects, holding the arms outstretched, and reaching over the head can become impossible because of weaknesses in the shoulder muscles.


• Some individuals with LGMD may eventually have difficulties in swallowing and feeding themselves.


• Sometimes the back muscles can become weakened and result in scoliosis (curvature of the spine).


• LGMD can occasionally result in a weakening of the heart muscles and/or the respiratory muscles. Some people may experience cardiomyopathy.


• A weakening of the muscles necessary for respiration can cause breathing difficulties.


4. Facioscapulohumeral Muscular Dystrophy


The clinical phenotype is known to be distinctive. Symptoms usually commence in the second or third decade for most affected patients. (18)


• FSHD is characterized by onset of weakness in an initially restricted and characteristic distribution, starting with facial weakness, followed sequentially by scapular fixator, humeral, truncal, and lower-extremity weakness.


• The most common initial symptom is difficulty reaching above shoulder level related to weakness of the scapular fixators.


• The clinical severity is wide ranging, from asymptomatic individuals to individuals who are wheelchair-dependent.


• Symptomatic respiratory weakness occurs in only about 1% of affected individuals.


• The most common extramuscular manifestations in FSHD are mild high-frequency hearing loss and asymptomatic retinal telangiectasias, occurring in 75% and 60% of affected individuals, respectively.


• Rarely, in severely affected individuals, the retinal vascular abnormalities can cause potentially catastrophic retinal exudation leading to retinal detachment (Coat’s syndrome).


• Cardiac involvement, manifesting as a predilection to atrial arrhythmias, is seen in about 5% of patients, few of whom require treatment.


5. Oculopharyngeal Muscular Dystrophy


The symptoms of OPMD usually start in the fifth or sixth decade, with a slowly progressive course; eventually, beyond the age of 70, all patients are symptomatic


The main symptoms are:


• Ptosis (drooping eyelids) and dysphagia (difficulty in swallowing) due to weakness of the levator palpebrae and pharyngeal muscles. Muscles around the eyes can also be affected (external ophthalmoplegia). This additional muscle weakness leads to a decreased range of motion of the eyes causing problems such as difficulty gazing upwards and double vision (diplopia).


• Characteristic face with progressive facial muscle weakness


• Progressive weakness of throat muscles


• Progressive limb muscle weakness


• Weakness and atrophy of the tongue can be observed in the vast majority of patients.


• Consecutive aspiration pneumonia, together with malnutrition or even starvation, is the leading causes of death in patients with OPMD.


6. Emery- Dreifuss Muscular Dystrophy


Emery-Dreifuss muscular dystrophy (EDMD) is a relatively benign form of dystrophy, with onset in early childhood and thereafter relatively slow progression that is characterized by


• Early contractures of the Achilles tendons, elbows and postcervical muscles.


• slowly progressive muscle wasting and weakness with a distinctive humeroperoneal distribution in the early stages of the disease,


• Cardiomyopathy with life threatening conduction defects (23) Cardiac involvement is the most serious and important aspect of the disease. It usually becomes evident as muscle weakness progresses, but may exceptionally occur before there is any significant weakness. In almost all those affected by the disorder there is some evidence of cardiac involvement by age of 30 years.


7. Congenital Muscular Dystrophy


Muscle weakness typically presents from birth to early infancy.


The main symptoms are:


• Hypotonia and muscle weakness at birth or during infancy. Affected children may present with poor or decreased gross motor development.


• Delay or arrest of motor milestones


• Joint contractures, spinal deformities, and respiratory compromise.


• The central nervous system, eye, and connective tissue may also be involved.


8. Myotonic Muscular Dystrophy


• It affects the skeletal, smooth and cardiac muscle causing nervous system abnormalities, ocular diseases and endocrine disorders.


• Cardiac involvement is an integral part of the disorder, and it is mainly represented by conduction abnormalities, arrhythmias and, less frequently, heart failure progressive muscle wasting and weakness.


• People with this disorder often have prolonged muscle contractions (myotonia)


• Affected people may have slurred speech or temporary locking of their jaw and difficulty in swallowing


• Clouding of the lens of the eye (cataracts)


• Premature balding may occur in some males, while females may experience thinning of their hair.


9. Distal Muscular Dystrophy


The clinical presentation of Distal Muscular Dystrophy varies according to its types. It is majorly characterized by weakness and wasting of the muscles of the hands and forearms and lower legs.




Jeegar Mota

Cell # 9821151851

Chandu Kant

Cell # 9223363874

Copyright © 2018 Association for Muscular Dystrophy