Muscular Dystrophy Treatment 

Specification :

1. Occurs primarily in males and rarely in females as it is has a X-linked recessive inheritance
2. Most commonly seen

Age of Onset : 2-5 years

Causes : The major cause of Duchenne muscular dystrophy is the malfunctioning of one or more genes, making it a genetic disorder.

Symptoms : 

1. Calf muscle hypertrophy
2. Cardiomyopathy
3. Cognitive impairment
4. Delayed speech
5. flexion contraction
6. waddling gait
7. global developmental delay
8. Retarded motor delay
9. Progressive muscle weakness
10. Respiratory insufficiency

1. X-linked inheritance but milder than DMD 
2. Occurs in both males and females

1. Difficulty in climbing the stairs and walking
2. Exercise intolerance
3. Myalgia
4. Lower limb deformity
5. Abnormal liver function
6. Fatigue and muscle spasm
7. Tip-Toe gait

Age of Onset : At birth or early infancy

Causes :The proteins that are essential for the proper functioning of muscles, and in some cases, the eyes and brain, are impacted by genetic mutations, leading to the development of CMD.

Symptoms : 

1. Progressive muscle weakness initially identified as hypotonia
2. Delayed motor milestones like rolling over,sitting up or walking. In some cases milestones might not be met.
3. Deformed spinal curvature
4. Respiratory deficit
5. Learning disabilities
6. Seizures and vision problems

1. LGMD1 caused due to Autosomal dominant inheritance
2. LGMD2 caused to Autosomal recessive inheritance

1. The unifying features of LGMD are the weakness and atrophy of the voluntary limb-girdle muscles
2. Waddling gait
3. In few cases cardiomyopathy and cardiac arrhythmias is noticed

Specification : Third most common type of muscular dystrophy

Age of Onset : Before the age of 20

Causes : FSHD 1 and FSHD2 are caused by genetic mutations or faulty expressions of some genes.

Symptoms : Muscles of the face, shoulder blades and upper arms are most affected

Specification :Muscles shrink and hence appear atrophied. Poor grip and functional loss of the muscle mass

Age of Onset : 40-60 years

Causes : The mutation of at least eight genes that play a crucial role in muscle function leads to DD. This disorder can be inherited either in an autosomal dominant or recessive pattern.

Symptoms : 

1.  Distal myopathy with vocal cord and pharyngeal weakness
2. Finnish (tibial) distal myopathy- Muscle weakness of digital muscles
3. Gowers-Laing distal myopathy
4. Hereditary inclusion-body myositis type 1 – Foot drop
5. Miyoshi distal myopathy
6. Nonaka distal myopathy
7. Welander’s distal myopathy;

Specification : Rare genetic condition affecting the muscles of the upper eyelid and throat (pharynx particularly) Autosomal dominant form

Age of Onset : 40-50 years of age

Causes : The PABPN1 gene’s genetic defect is responsible for OPMD, as it causes the creation of a dysfunctional protein that clusters in muscle cells.

Symptoms : 

1. Drooping eyelids or ptosis
2. Difficulty in swallowing or dysphagia
3. Weakness of tongue
4. Limitation in upper gaze
5. Weakness in proximal muscles
6. Facial muscle weakness

Specification : A collection of genetic, progressive conditions that mainly impact voluntary muscles.It also affects the cardiac muscles.

Age of Onset :By the age of 10

Causes : EDMD occurs due to genetic mutations in the genes responsible for producing proteins that make up the membrane encircling the nucleus of each muscle cell. X linked inheritance is noticed

Symptoms : 

1. Toe walking due to stiff Achilles tendon of the heel
2. Joint stiffening may cause limitation in the arm,neck and spine movements.
3. Conduction block is a common feature.