EMERY-DREIFUSS MUSCULAR DYSTROPY (EDMD)

INTRODUCTION:-
Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle.
It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s.


SYMPTOMS:-
Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy.Among other signs/symptoms of Emery–Dreifuss muscular dystrophy are

Muscle weakness EDMD can affect the shoulders and lower legs
Cardiac involvement can affect an individuals heart rate (bradycardia, palpitations)
Contractures of the muscles occurs slowly, eventually leading to the need for orthopedics (walker, cane)

Cane

Walker

DIGNOSIS:-
The diagnosis of Emery–Dreifuss muscular dystrophy can be established via single-gene testing or genomic testing, and clinically diagnosed via the following exams/methods

CAT scan
Serum CK analysis
EKG
Echocardiogram
Electromyogram
Immunodetection

In order to differentiate EDMD from a neurological problem, a neurological screening can be performed.
Upper Motor Neuron Clinical Signs:

Weakness or paralysis
Spasticity
Increased tendon reflexes
Babinski sign
Loss of superficial abdominal reflexes
Little, if any, muscle atrophy

Lower Motor Neuron Clinical Signs:

Weakness or paralysis
Wasting and fasciculations of involved muscles
Hypotonia or flaccidity
Loss of tendon reflexes
Normal abdominal reflexes and negative Babinski sign

TREATMENT:-
The treatment (management) of Emery–Dreifuss muscular dystrophy can be done via several methods, however secondary complications should be consider in terms of the progression of EDMD, therefore cardiac defibrillators may be needed at some point by the affected individual. Other possible forms of management and treatment are the following

ACE inhibitor
Orthopaedics
Surgery
Monitor/treat any cardiac issues
Medication (beta-blockers, ACE inhibitors)
Respiratory aid
Physical therapy

→ Passive and active stretching to increase flexibility and prevent contractures
→ Strength exercises in order to maintain and improve muscle strength
→ Encouragement of activity: Assistive devices such as canes, braces, and wheelchairs may be needed to maintain    mobility

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