What are Muscular Dystrophies?

Muscular Dystrophies are characterised by specific abnormalities (eg:- Variation of muscle fiber size, muscle fiber necrosis, scar tissue formation and inflammation) in muscle biopsy from the patients. Approximately 30 different genetic conditions make up muscular dystrophies.

DMD is classified as dystrophinopathy. Dystrophinopathies are a spectrum of muscle diseases, each caused by alterations in the dystrophin gene. The most severe end of the spectrum is known as DMD. Lacking complete dystrophin protein is associated with a less severe form of Becker Muscular Dystrophy.

Clinical hallmarks of DMD include weakness and wasting of various voluntary muscles of the body; in the most advanced stages of the disease, the heart and gut muscles will be affected.

What is DMD?

Duchenne Muscular Dystrophy is a genetic disorder characterised by progressive muscle degeneration and weakness due to alterations of a protein called Dystrophin.

It is a condition that causes skeletal and heart muscle weakness that quickly gets Worse With time. But this condition can’t be cured. It requires medical diagnosis CPK test, Hemogram test & serum electrolytes and LFT vit D3 Ex:- Lab tests are imaging always required chronic: can last For years Or be lifelong progressive Muscle weakness, typically in boys, Rarely in girls.

What causes DMD:- caused by a defective gene for dystrophin a protein in the muscle.

However, it often occurs in people with a known family history of the condition; DMD occurs In about one out of every 3,600 males.

The four stages of DMD:- With expert clinical input, DMD progression was classified into four stages based on ambulatory and pulmonary ability indicators and

patient age.

Early ambulatory, late ambulatory, early non-ambulatory and late non-ambulatory.

Causes

The X-chromosome’s DMD gene regulates the production of a dystrophin protein that is found in association with the Inner side of the Membrane and cardiac muscle cells.”

Types of DMD ?

Becker DMD, Congenital DMD, Duchenne DMD, Distal DMD, Emery- Dreifuss DMD, Facio Scapulohumeral DMD, limb- Girdle DMD, Myotonic DMD, and Occulopharyngeal DMD.

Becker DMD:- It is a form of Muscular dystrophy Genetic disorder that gradually makes the body’s Muscles Weaker and Smaller.

Inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis.

CONGENITAL DISORDER MUSCULAR Dystrophy

CMD is a genetic condition. The loss of glycoproteins in cells due to the Mutation affects the normal Function of Muscles

DUCHENNE

Duchenne Muscular dystrophy is caused by a defective a protein in the gene For dystrophin ( a protein in the muscles). However it often occurs in people without a known family history of the condition duchenne muscular dystrophy occurs in about 1 out of every 3600 males infants.

DISTAL MUSCULAR DYSTROPHY

Is a group of rare disease that Effects your muscles ( Genetic hypothesis) DMD causes weakness that starts In the lower arms and legs ( the ---- muscles) it then may gradually spread the affects to other parts of your body. The muscles shrine (atrophy)

Emery-Dreifuss DMD- is a condition that primarily affects the muscles used for movement (skeletal muscles) and the heart(cardia muscle) among the earliest features of the disorder are joint deformities called contractures.

(1) FACIO SCAPULOHUMERAL MUSCULAR DYSTROPHY

(2) LIMB - GIRDLE

(3) MYOTONIC DMD

(4) OCCULOPHARYNGEAL- DMD

Diagnosis

Muscle Biopsy of a one-year child provider may take a small sample of muscle tissue from their thigh or calf.

Weak legs, difficulty running or jumping, frequent falls, loss of ability to walk, difficult breathing or catching a breath

Treatments

1.Flazocort Or defcort 2. Prednisolone 3. Methyl

prednisone.

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