An audiologist specialises in ears and the associated structures. Their interest is in hearing, balance and auditory processing (how the brain interprets signals from the ears).
Hearing loss is common in FSHD but is usually not noticeable as it just affects high frequencies. Paediatric FSHD however is associated with severe hearing loss for some children.
A neurologist specialises in conditions that affect the nervous system. This includes the brain and nerves but also structures related to the nervous system such as the coverings for nerves (eg. Myelin shealth), blood vessels and muscles.
For most people with FSHD they will be diagnosed and initially cared for by a neurologist. Your neurologist should coordinate referrals to other healthcare professionals and be a central support.
Neurologists tend to have sub-specialities, so many will be focussed on stroke or multiple sclerosis or epilepsy and not neuromuscular disease. It’s important to find someone who has experience in neuromuscular disease.
Occupational therapists work with people to help them maintain their independence and function. They are mainly concerned with helping people maintain their daily activities. They are very good at devising ways to help you keep going with the activities you want to by using aids, medical equipment, assistive technology and exercises. Occupational therapists are likely to be involved in recommending mobility aids and orthotics.
Your neurologist or other healthcare professional should refer you to an occupational therapist for assessment.
A physiotherapist is concerned with helping you maintain function. It’s important that you find a therapist who is experienced in degenerative disease. Many physiotherapists have extensive training and expertise in rehabilitation where recovery is the aim of therapy. Unfortunately, this model of care is not generally applicable to FSHD.
Your neurologist should be able to refer you to a physiotherapist with experience in neuromuscular disease.
Physiotherapists are likely to be involved in recommendations for mobility aids and orthotics in collaboration with your neurologist and a orthotist.