Muscular Dystrophy, Types of Muscular dystrophy

Defination | Types | Symptoms | Diagnosis | Treatment

What is muscular dystrophy?

Muscular dystrophy refers to a set of hereditary disorders that cause muscular degeneration and weakness over time. The lack of a protein called dystrophin, which is required for optimal muscular function, causes this damage and weakening. Walking, swallowing, and muscular coordination can all be affected by a lack of this protein. 

Muscular dystrophy can strike at any age, however it is most commonly diagnosed in children. This disorder is more common in young boys than in young girls.

 

What are the Types and symptoms of muscular dystrophy?

There are nine different groups.

Duchenne muscular dystrophy

This is the most frequent kind of muscular dystrophy in children. Boys make up the vast majority of those impacted. It's uncommon for females to develop it. Among the signs and symptoms are:

•Trouble walking

•loss of reflexes

•Difficulty in standing up

•Poor posture

•Lungs and heart weakness

•Swallowing difficulty

•Bone thinning

•Scoliosis:- (which is an abnormal curvature of your spine)

•Breathing difficulties

 

Becker muscular dystrophy

Becker muscular dystrophy is a type of muscular dystrophy that is comparable to Duchenne muscular dystrophy but is less severe. Boys are more typically affected by this kind of muscular dystrophy. Muscle weakness is most common in the arms and legs, and symptoms usually begin between the ages of 11 and 25.

Other Becker muscular dystrophy symptoms include: 

 

•Walking on your toes

•Muscle spasms 

•Frequent falls 

•Having difficulty getting up from the floor

 

Myotonic dystrophy

Steinert's disease or dystrophia myotonica are other names for myotonic dystrophy. Myotonia, or the inability to relax your muscles after they contract, is a symptom of this type of muscular dystrophy. This kind of muscular dystrophy is the only one that causes myotonia.

Myotonic dystrophy can affect your: 

•Facial muscles

•Central nervous system (CNS)

•Adrenal glands

•Heart

•Thyroid

•Eyes

•Gastrointestinal tract (GIT)

Symptoms most often appear first in your neck and face. They include:

•Drooping of muscles in your face, producing a thin, haggard look

•Difficulty in lifting your neck due to weaken neck muscles

•Difficulty during swallowing

•Dropping of  eyelids, or ptosis

•Early baldness in the front area of your scalp (Head)

•Poor in vision

•Weight loss

•Increased sweating

Males with this form of dystrophy may experience impotence and testicular atrophy. It can induce irregular periods and infertility in women. 

Adults in their 20s and 30s are the most likely to be diagnosed with myotonic dystrophy. Symptoms might range from mild to severe. Some people have moderate symptoms, while others have symptoms involving the heart and lungs that could be life-threatening.

 

Congenital muscular dystrophy

Between the ages of birth and two, congenital muscular dystrophies are frequently visible. This is when parents observe that their child's motor skills and muscle control aren't progressing as they should. Symptoms can include any of the following:

 

•Muscle weakness

•Poor motor control (PMC)

•Inability to sit or stand without support

•Scoliosis

•Foot deformities

•Trouble in swallowing

•Respiratory problems

•Vision problems

•Problems in speech

 

Facioscapulohumeral (FSHD)

Landouzy-Dejerine disease is another name for Facioscapulohumeral muscular dystrophy (FSHD). The muscles in your face, shoulders, and upper arms are affected by this type of muscular dystrophy. FSHD can lead to:

•Slanted shoulders 

•Crooked appearance of the lips 

•Wing-like aspect of the shoulder blades •Difficulties chewing or swallowing

Hearing and respiratory difficulties affect a tiny percentage of patients with FSHD. 

The progression of FSHD is usually sluggish. Symptoms typically occur throughout your adolescent years, however they might even appear in your 40s. The majority of patients with this illness survive to be 100 years old.

 

Limb-girdle muscular dystrophy

Muscle weakness and loss of mass are symptoms of limb-girdle muscular dystrophy. Muscular dystrophy of this type usually starts in the shoulders and hips, although it can also affect the legs and neck. If you have limb-girdle muscular dystrophy, it may be difficult to get out of a chair, move up and down stairs, or carry heavy goods. You may also be more prone to stumbling and falling. 

Males and females are both affected by limb-girdle muscular dystrophy. By the age of 20, the majority of people with this type of muscular dystrophy are completely crippled. Many, on the other hand, have a normal life expectancy.

 

Oculopharyngeal muscular dystrophy (OPMD)

Facial, neck, and shoulder muscles become weak as a result of oculopharyngeal muscular dystrophy. Other signs and symptoms include:

 

•Eyelids that are drooping 

•Vocal changes are difficult to swallow 

•Issues with vision 

•Issues with the heart 

•Walking difficulties 

•Both men and women can develop OPMD. •Diagnoses are most common in people in their 40s and 50s.

 

Distal muscular dystrophy

Distal myopathy is another name for distal muscular dystrophy. It has an impact on the muscles in your: 

•Forearms

•Hands

•Calves

•Feet 

It may also have an impact on your lungs and heart muscles. The symptoms, which include:

 

•A loss of fine motor skills 

•Trouble walking, tend to advance slowly. Between the ages of 40 and 60, the majority of persons, both male and female, are diagnosed with distal muscular dystrophy.

 

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy is more common in boys than it is in girls. Muscular dystrophy of this sort usually begins in childhood. Among the signs and symptoms are: 

 

•Muscle weakness in your upper arm and lower leg 

•Breathing difficulties 

•Issues with the heart 

•Muscle shortening in the spine, neck, ankles, knees, and elbows 

The majority of people with Emery-Dreifuss muscular dystrophy die in their forties or fifties from heart or lung failure.

 

How is muscular dystrophy diagnosed?

A variety of tests can be used to assist your doctor diagnose muscular dystrophy. Your doctor may be able to: 

 

•Look for enzymes generated by injured muscles in your blood. 

•Check your blood for muscular dystrophy genetic markers. 

•Using an electrode needle that is inserted into your muscle, do an electromyography test on the electrical activity of your muscle. 

•Perform a muscle biopsy to check for muscular dystrophy in a sample of your muscle.

•Muscle inflammation (myositis) or muscular damage owing to muscle diseases can be detected using a creatine kinase (CK) 

How is muscular dystrophy treated?

Although there is no cure for muscular dystrophy, medicines can help you manage your symptoms and decrease the disease's course. Treatment options are determined by your symptoms. 

 

There are several treatment options available, including: 

 

•Corticosteroid medicines, which aid to build your muscles and slow down the degradation of your muscles. 

•If your respiratory muscles are affected, you may need assisted ventilation. 

•If you have heart problems, you may need medication. 

•Surgery to help correct muscle shortening •Surgery to repair cataracts 

•Surgery to treat scoliosis 

•Surgery to treat cardiac problems 

Therapy has been shown to be beneficial. Physical therapy can help you maintain your range of motion and strengthen your muscles. Occupational therapy can assist you in the following ways: 

 

•Become more self-reliant and increase your coping abilities 

•Enhance your social abilities 

•Access to community resources

 

 

 

what is Facial Palsy? facial palsy and lyme disease, causes facial palsy

What causess bell's palsy | Facial Palsy and lyme disease | Facial Palsy stroke | Exercise for facial palsy | facial paralysis | bell's palsy treatments | Types of facial palsy 

Introduction

Damage to the facial nerve (i.e. cranial nerve VII) that supplies the muscles of the face causes facial palsy. Based on the location of the casual pathology, it can be divided into two types: 

1:-Palsy of the central face 

Due to injury above the nucleus of the face. 

2:-Palsy of the peripheral face 

Due to injury below the nucleus of the face. 

The pons houses the nucleus of the facial nerve. Before departing the skull through the stylomastoid foramen, it travels a fairly circuitous trip. It then splits into five branches as it goes through the parotid gland.

· Temporal

· Zygomatic

· Buccal

· Mandibular

· Cervical

Causes

•Bell's Palsy or Idiopathic:- Face paralysis is caused by a variety of factors. 

Although the etiology is unknown, it is thought to be associated to Herpes Simplex infection.

•Tumor

•Infection:- Ramsay Hunt syndrome - caused by Herpes Zoster infection.

•Lyme disease - caused by infection with Borrelia burgdorferi via tick bites.

•Iatrogenic facial nerve damage

•Occurs most commonly in temporomandibular joint replacement, mastoidectomy and parotidectomy.

•Trauma:- Especially temporal and mastoid bone fractures mostly.

Rare causes, including:

· Otitis media

· Multiple sclerosis

· Guillain-Barre syndrome

 

Risk factors

· Diabetes

· Pregnancy

· Ear infection

· Upper respiratory tract infection

· Obesity

Diagnosis

Laboratory investigations include an:-

Audiogram.

Nerve conduction studies (ENoG).

Computed tomography (CT).

Magnetic resonance imaging (MRI).

Electromyography (EMG).

 

Differential Diagnosis

Other than Bell's Palsy, important differential diagnoses for a facial palsy include: 

 

UMN causes

A stroke, a subdural hematoma, or a brain tumor are examples of UMN causes. 

The will present with a shaved brow. 

 

LMN causes

LMN has a number of effects. 

Acute otitis media, cholesteatoma, and viral infection are examples of infectious diseases (including HSV-1, CMV, and EBV).

Neoplasm is a term used to describe a (parotid malignancy).

Iatrogenic or traumatic injury.

 

Management

Patient reassurance is critical, since most patients recover to full function on their own. One of the most crucial aspects of treatment is eye care, which includes ensuring that the patient uses lubricating drops on a regular basis and considering the use of eye ointment and/or an eye patch at night.

Oral steroids should be given to all patients who present within 72 hours after the onset of symptoms. According to current NICE recommendations, you should do one of the following: 

For ten days, take 25 mg twice a day. 

Giving 60 mg daily for five days, then a daily dose reduction of 10 mg 

The use of antiviral drugs is debatable.

 

Physiotherapy ( Exercise for facial palsy )

The most crucial thing to do in the early stages of facial palsy is to make sure that patients are properly caring for their damaged eye. Patients with facial palsy are more prone to experience dry eyes in the early weeks and months since the face nerve is crucial for producing lubricant for the cornea. As a result, they are at risk of getting a corneal ulcer, which can result in vision loss in the affected eye. 

 

If other medical personnel have not already done so, the therapist should educate the patient about dry eye management. An urgent referral to ophthalmology is required if the eye seems red or the patient describes repeated episodes of redness.

Treatments like these are included:

•Self-massage 

•Exercising your breathing and relaxing 

•Exercises to improve coordination and lessen synkinesis on both sides of the face. 

•Exercises to aid with the closing of the eyes and lips 

•Exercising using letters, words, and facial expressions.

Difference between Bell's palsy and Facial palsy?

Bell's palsy is characterized by inflammation of the facial nerve, which results in facial paralysis on the affected side. The most common acute disorder affecting only one nerve is facial nerve palsy, with Bell's palsy being the most prevalent cause of acute facial paralysis.