What is FSHD (Facioscapulohumeral Muscular Dystrophy)?

Facioscapulohumeral muscular dystrophy is the most common type of muscular dystrophy. Symptoms of FSHD typically begin in the muscles of your face and upper body but can advance to any muscle in your body. FSHD is an inherited condition, with symptoms beginning in infancy but often occurring between adolescence and ages 20 to 30. There is no cure, but therapies exist to ease your symptoms and improve your quality of life.

Types of Facioscapulohumeral Muscular Dystrophy:

The two types of FSHD cause the same symptoms but occur for different reasons:

• FSHD1, which accounts for 95% of cases, occurs when a gene that's normally inactive in most of your cells becomes active. The reactivated gene produces proteins that kill muscle cells.
• FSHD2 accounts for the remaining cases. As with FSHD1, protein from a reactivated gene damages muscle. However, FSHD2 occurs when a different gene mutates, turning on the inactive genes.

What are the symptoms of FSHD?

FSHD (facioscapulohumeral muscular dystrophy) gets its name from Latin and medical terms for the muscles in parts of your body where symptoms typically first appear:

Facio is the Latin word and medical term for face. People with FSHD can't "purse" their lips to whistle or sip through a straw. They may sleep with their eyes slightly open because they can't shut their eyes.

Scapula is the Latin word and anatomical term for the shoulder blade. FSHD weakens the muscles that hold your shoulder blades in place. When you move your shoulder blades, they stick out and move up toward your neck, so your shoulder blade looks like a wing. Providers may call this scapular winging.

Humeral is Latin for the upper arm and the anatomical term for the bone that runs from your shoulder to your elbow. If you have FSHD, your biceps and triceps are weak. This weakness makes it difficult for you to lift your arms above your shoulders.

FSHD may affect different muscles at different times. For instance, your right arm may be weak, but your left may not be. Or both arms may be weak, but one will be much weaker than the other. Other common symptoms include:

• Weak lower abdominal muscles make your belly stick out.
• Sunken breastbone.
• Weak or drooping wrists.
• Chronic fatigue.
• Pain that can be severe.

What are FSHD's side effects?

Side effects or complications may include conditions that affect your vision, hearing, and your ability to get around. About 20% of people with FSHD need to use wheelchairs after age 50. Specific conditions include:

• Coats' disease is when you have abnormal blood vessels in your retina.
• Exposure keratitis happens when you can't close your eye all the way, so your cornea becomes dry.
• High-frequency hearing loss.
• Trendelenburg gait, which occurs when the muscle in your thigh that makes it move out is weak, so that you sway toward your affected side when you're walking.
• Footdrop is when you can't extend or bend your foot upward.
• Lordosis.
• Scoliosis.

What causes Facioscapulohumeral Muscular Dystrophy?

FSHD1 arises when the gene DUX4, normally silenced in most of your cells, reactivates itself. This now-active gene encodes proteins that destroy muscle cells. Muscle cells deteriorate over time.

FSHD2 is caused by mutations in the SMCHD1 gene. The gene encodes proteins that prevent DUX4 genes from being reactivated. In case this changes, though, the process ceases functioning. Like with FSHD1, it's because of the resurgent DUX4 genes producing protein, causing damage to muscle.

How is the condition inherited?

People can inherit the disorder if either biological parent carries one copy of a defective gene. (This is autosomal dominance. People with FSHD have a 50% chance of passing the abnormal gene on to their children. About 30% of people with FSHD1 do not have a family history of the condition. Researchers believe this may occur because a new mutation arises after conception, possibly through mosaicism. Mosaicism occurs when individual cells differ in their genetic makeup.

What are the risk factors for facioscapulohumeral muscular dystrophy?

The biggest risk factor is a family history of the disease.

How do you diagnose facioscapulohumeral muscular dystrophy?

A medical professional will examine you. They may ask if you know anyone in your family with similar symptoms or who has FSHD. Providers may order some of the following tests:

• Blood tests: Providers test for enzyme levels, such as serum creatine kinase and serum aldolase. Elevated levels of either enzyme could indicate problems with your muscles.
• Neurological tests: Providers perform these tests to rule out other possible nervous system disorders. They may test your reflexes and coordination. They will also look for patterns of muscle weakness and check whether your muscles are contracting or tightening (electromyography).
• Muscle biopsy: A provider may do a biopsy to obtain a specimen of muscle tissue that a medical pathologist examines under the microscope.
• Genetic tests: These are the only tests that confirm FSHD and help identify the condition type.

What are the treatments for FSHD?

There's no cure for FSHD, but health care providers make recommendations on how to ease its symptoms:

Physical therapy

Orthotic devices that support weak muscles, like corsets for weak stomach muscles, back supports, and braces to support your shoulders and ease shoulder pain.

Orthotics for your shoes to help you walk and reduce your risk of falling.

Surgical scapular fixation to improve your shoulder range of motion.

What is the life expectancy for someone with FSHD?

Most people with facioscapulohumeral muscular dystrophy can expect to have normal lifespans.

Living With

How do I take care of myself?

Facioscapulohumeral muscular dystrophy is a life-changing disease that healthcare providers can't cure. Here are some suggestions that may help you navigate life with FSHD:

• Connect with others who have FSHD: This is a rare disorder, and most people do not understand it. You may not feel like talking about your situation, and you might feel isolated or lonely. You might find some solace by talking to others who are experiencing the same thing you are.
• Connect with an occupational therapist: FSHD can limit what you can do for yourself. It can be frustrating and frightening to lose your independence. Occupational therapy may help you learn how to negotiate your new normal.
• Get some gentle aerobic exercise: Exercise helps with mobility. More than that, exercise helps ease stress. Before you start an exercise program, talk to your healthcare provider.

Why choose Tender Palm Super-Speciality Hospital for FSHD (Facioscapulohumeral Muscular Dystrophy) Treatment in Lucknow, India?

Tender Palm Super-Speciality Hospital offers advanced FSHD (Facioscapulohumeral Muscular Dystrophy) treatment in Lucknow, India, at an affordable cost. We have a team of experienced neurologists and neuromuscular disorder specialists who provide accurate diagnosis and both non-pharmacological and pharmacological treatment options including physiotherapy, assistive device support, and comprehensive muscle rehabilitation procedures. Our Neurology and Neuromuscular Disorder Care team has decades of experience in successfully treating FSHD (Facioscapulohumeral Muscular Dystrophy) in Lucknow, India.

To seek an Expert Consultation for FSHD (Facioscapulohumeral Muscular Dystrophy) Treatment in Lucknow, India:

Call us at +91-9076972161
Email at care@tenderpalm.com

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