Despite the lack of a cure or effective medical treatment for FSHD, its effects can be managed, coped with, and mitigated. Dealing effectively with FSHD requires a team approach. Your medical team should include medical professionals from a variety of disciplines—from neurologists and audiologists to physical and occupational therapists—with experience helping FSHD patients or patients with other muscular dystrophies. You can learn more about these specialists by clicking on the links below.
It is important to keep in mind that managing your FSHD goes beyond medical care. Keeping an open line of communication with your medical caregivers is vital. Share not only details of your FSHD symptoms, but also those about your job, lifestyle, diet, stresses, home environment, medications, and exercises. FSHD is a common adult muscular dystrophy, but the number of people living with the disease is not high. You may be the only patient with FSHD that your doctors have seen. It may be worth traveling to see a physician with FSHD expertise. (Angel Flight East provides free flight travel for people who need specialized medical care and cannot afford to the travel cost.)
Each individual is different, and no one knows you as well as you do. All FSHD patients have the right and ultimate responsibility to make decisions about managing their FSHD.
- Specific health subjects are addressed in the Health Topics section.
- Telemedicine for FSHD may be available from leading clinics.
- Evidence-based FSHD care guideline – Summary for clinicians.
- Evidence-based FSHD care guideline – Summary for patients & families.
171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy is a useful reference to share with your physician.
Additional helpful resources
- The Centers for Independent Living are a nationwide network of consumer‑controlled, community‑based, cross‑disability, nonresidential private nonprofit agencies that are designed and operated within a local community by individuals with disabilities and provides an array of independent living services. To find a center near you, visit their national directory.
- Durable Medical Equipment Guide. CureDuchenne has compiled this extensive resource for equipment that individuals with Duchenne muscular dystrophy may need. Much of this information is applicable for FSHD. It is missing some of our favorite products (check our blog posts), but still, it is a very well-curated resource.
Guide to medical specialists
Anesthesiologists are medical doctors who give patients drugs to relieve pain or put them to sleep during surgery. Anesthesia is focused on management of pain during and after surgery. Anesthesiologists must be familiar with the patient’s conditions in order to determine the best options for anesthesia. An anesthesiologist will review medical charts, ask about known allergies and read the comments of family doctors and specialists. Anesthesiologists meet with patients prior to surgery or on the day of the surgery. They discuss possible risks, listen to concerns and answer questions. Together with the patient, the surgeon and other doctors, anesthesiologists decide which methods and medicines to use. Anesthesiologists administer the drugs and monitor the patient during surgery. See also the section on Anesthesia.
For general information about anesthesiologists, see the following websites:
An audiologist is a healthcare professional who specializes in the ears and related structures of the auditory and vestibular systems, hearing and balance function, and central (brain) auditory processing. Audiologists develop and implement programs to help with hearing aids, cochlear implants, FM systems (a wireless headphone receiver and transmitter microphone that uses FM radio frequency and can be used as headphone or coupled to a hearing aid), assistive devices and aural rehabilitation.Bilateral high frequency sensorineural hearing loss has been associated with early onset FSHD. Often the hearing loss is severe to profound in infants and children, and may commonly be misdiagnosed as mental retardation. In addition, many other people with FSHD have high frequency hearing loss, but it does not affect daily living as it is at the subclinical level.
For general information about audiologists, see the following websites:
An otolaryngologist—a head and neck surgeon—provides comprehensive medical and surgical care for adult and pediatric patients with diseases and disorders that affect the ears, nose, and throat (ENT), the respiratory and upper alimentary systems, and related structures of the head and neck. Many otolaryngologists focus on one or more subspecialty areas including allergy; facial plastic and reconstructive surgery; head and neck surgery (benign and malignant tumors including the thyroid and parathyroid glands); laryngology (voice and swallowing disorders); otology/audiology; and rhinology (nose and sinus disorders). In addition, otolaryngologists can be sub-certified by taking additional training and an examination in disorders of the inner ear and sleep medicine.
For general information about ear, nose, and throat specialists, see the following websites:
- American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS)
- American Academy of Otolaryngic Allergy
- American Academy of Otolaryngology—Head and Neck Surgery (AAO-HNS)
- Hearing Health Foundation
- National Institute on Deafness and Other Communication Disorders (NIDCD)
- American Speech-Language-Hearing Association
Neurology is a medical specialty dealing with disorders of the nervous system. A neurologist is a physician who specializes in the diagnosis and treatment of diseases of the nerves and nervous system. Specifically, neurologists are focused on the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and muscle. Pediatric neurologists treat neurological disease in children.In most cases, a primary care or internal medicine doctor will refer patients with suspected or confirmed FSHD to a neurologist for evaluation and follow-up. A neurologist who has extensive training and experience with muscular dystrophies is referred to as a neuromuscular doctor (NMD) or specialist. A neurologist will usually refer a FSHD patient to a rehabilitation doctor, known as a physiatrist, for further assessment and help. Many FSHD patients find it useful to see their neurologist regularly, and consider their neurologist as the doctor most involved in following their FSHD.
For general information about neurologists, see the following websites:
An occupational therapist (OT) is a health professional who works with patients to help achieve functional outcomes that promote health, prevent injury or disability, and maintain the highest possible level of independence, safety, and quality of life. Occupational therapists are concerned with helping patients in their “occupations”—the day-to-day tasks that “occupy” their time at home, work, and elsewhere. The neurologist or physiatrist will usually refer an FSHD patient to an occupational therapist for an evaluation and assessment of function and daily living tasks at work, in the home, and out and about. The occupational therapist and patient work together on a program to maintain function and daily living by using aids, durable medical equipment, assistive technology, and exercises to increase and maintain function.
Please refer also to the section on Occupational Therapy and Assistive Technology.
For general information about occupational therapy, see the following website:
Orthopedics is the medical specialty that focuses on injuries and diseases of the musculoskeletal system. This includes bones, joints, ligaments, tendons, muscles, and nerves, the proper functioning of which allows you to move, work, and be active. A physician who specializes in orthopedic surgery (also known as orthopedics) is a surgeon concerned with injuries to, or conditions involving, the musculoskeletal system. Orthopedic surgeons address most muscle and bone injuries that require surgery, and some are also skilled in dealing with congenital conditions that result in orthopedic deformities.
Orthopedic surgeons can help patients with FSHD resolve problems from broken bones from falls, and joint problems due to sprains and overuse. Several types of surgeries can be performed by orthopedic surgeons to correct scoliosis, lordosis, scapular winging (scapular fixation surgery), and foot-drop (tendon transfer surgery).
See also the section on Scapular Fixation Surgery.
For general information about orthopedic surgeons, see the following websites:
Orthotists are professionals who provide biomechanical devices to physically disabled persons to enable them to function better. An orthotist specializes in designing, manufacturing, producing, and fitting orthopedic braces and similar devices such as surgical supports and corrective shoes. These are used to support weakened body parts or correct physical defects. They improve people’s lives by giving them an artificial advantage through a brace.
Usually, a physiatrist or a neurologist will write a prescription for an orthotic, and the patient will visit a brace clinic with an orthotist who then designs the prescribed appliance. The orthotist takes the measurements and molds necessary to fabricate the brace. For example, if the appliance prescribed is an ankle-foot orthotic (AFO), the orthotist must design one based on the proper length, shoe size, width, and other important factors. When the brace is ready, the orthotist then fits the device, making adjustments necessary to ensure optimal functional and pain-free use by the patient.
For general information about orthotists, see the following websites:
Physical medicine and rehabilitation (PM&R), or physiatry, is a branch of medicine dealing with rehabilitation—the functional restoration of a person affected by physical disability. A physician who has completed training in this field is referred to as a physiatrist. Physiatrists specialize in restoring optimal function to people with injuries to the muscles, bones, tissues, and nervous system. The primary care doctor or neurologist will usually refer an FSHD patient to a physiatrist, who will usually in turn request an evaluation from both a physical therapist and an occupational therapist.
After talking with and examining the patient, a physiatrist might suggest:
- an evaluation by a physical therapist for an exercise program;
- an evaluation by an occupational therapist of function in the home and at work;
- an evaluation by a pulmonologist and respiratory therapist to monitor or get a baseline on breathing status;
- an evaluation by an otolaryngologist (ENT)—a speech, hearing, and language therapist—for hearing and speech issues or for problems associated with facial weakness;
- an evaluation by a plastic surgeon for problems associated with eye closure due to eyelid weakness;
- an evaluation by an orthotist, or a prescription for a brace clinic for braces and orthotics;
- a yearly flu shot;
- a pneumonia vaccine (Pneumovax®);
- an automobile driving assessment by a certified driver rehabilitation specialist;
- a wheelchair clinic to assess and try scooters and wheelchairs;
- a bone density scan for osteoporosis.
Dr. Susan Keeshin of the Shirley Ryan Ability Lab in Chicago, provided an excellent overview of a Physiatric approach to FSHD.
For general information about physiatrists, see the following websites:
A physical therapist (PT) helps individuals develop, maintain, and restore maximum movement and functional ability. These services may be performed by a trained PT or a PT assistant. A physical therapist utilizes an individual’s history and physical examination to establish a management plan for the patient. After an assessment by the doctor, usually a physiatrist or neurologist, the FSHD patient is referred to a physical therapist for an evaluation and assessment of function, strength, and range of motion. The physical therapist and patient work together on a program to maintain function and strength.
See also the section on Physical Therapy.
For general information about physical therapists, see the following website:
Pulmonology is a medical specialty that covers diseases of the lungs and the respiratory tract. A pulmonologist, or pulmonary disease specialist, is a physician who possesses specialized knowledge and skill in the diagnosis and treatment of pulmonary (lung) conditions and diseases. Pulmonology is classified as an internal medicine subspecialty. Pulmonologists help patients with breathing and respiratory issues and, in more severe or intensive care situations, with both invasive and non-invasive mechanical ventilation.
Keeping tabs on your respiratory status and function is important when you have been diagnosed with FSHD. The psychiatrist, neurologist, or internal/general medicine doctor will usually refer patients to a pulmonologist for a pulmonary function workup when respiratory insufficiency or failure is suspected. It is very important for FSHD patients to insist on periodic and baseline testing for respiratory insufficiency even though they may be pre-symptomatic.
For general information about pulmonologists, see the following website:
Respiratory therapists, also known as respiratory care practitioners, provide treatment, evaluation, monitoring, and management of patients with breathing disorders or cardiovascular problems. Care provided by respiratory therapists includes administering oxygen, cardiopulmonary resuscitation, managing mechanical ventilators, monitoring cardiopulmonary systems, measuring lung function, and administering drugs to the lungs.
Therapists regularly monitor patients and equipment. If the patient is having difficulty, or if the oxygen, carbon dioxide, or pH level of the blood is abnormal, therapists change the ventilator settings according to the physician’s order or check equipment for mechanical problems. Respiratory therapists perform chest physiotherapy on patients to remove mucus from their lungs and improve breathing. For example, during surgery, anesthesia depresses respiration, and this chest physiotherapy may be prescribed to return the patient’s lungs to normal functioning and prevent congestion.
When an FSHD patient is suspected of having respiratory insufficiency, a pulmonologist will usually refer the patient to a respiratory therapist for instruction and help with exercises and use of ventilation equipment.
See also the section on Breathing.
For general information about respiratory therapists, see the following website: