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NEW ORLEANS – It is a good idea to cast a wide net when asking patients with facioscapulohumeral muscular dystrophy about their symptoms because many problems go unrecognized, and some are at least partially treatable, according to a survey of 328 patients in the National Registry of Myotonic Dystrophy and FSHD Patients and Family Members.
For example, patients said not being able to play sports with their children, family, and friends was important. "Dancing is important in this population, too. I would never have guessed it, but it is," said lead investigator Dr. Chad Heatwole, an assistant professor of neurology at the University of Rochester (N.Y.).
For some, not being able to ski or play golf was more important than was difficulty walking.
It might take some creativity to help with such problems, but emotional problems – mostly depression and anxiety – were reported by about 75% of patients, and are readily treated with counseling and medication. These problems "are highly prevalent and an issue we didn’t expect," Dr. Heatwole said at the annual meeting of the American Academy of Neurology.
Usually all we ask is, "How strong are you? Can you go up the stairs?" he said. "These aren’t very amenable to therapy. But pain, fatigue, depression, anxiety, and the different types of emotional problems – you wouldn’t think to ask about these – they’re important but not that addressed."
The roots of the survey were extensive interviews of 20 patients with FSHD (facioscapulohumeral muscular dystrophy) that revealed 250 symptoms and 14 symptom categories of likely importance to the FSHD community. The 328 surveyed patients with FSHD from 46 states had a mean age of 55 years (range, 23-86 years). About half had a job.
More than 90% reported a variety of symptoms and limitations:
• An inability to do previous activities.
• Physical, emotional, or cognitive fatigue.
• Back, chest, or abdominal weakness.
• Mobility or walking limitations.
• Shoulder and arm problems.
• Disease-related changes in body image to the point that patients didn’t like to go swimming because of it.
Shoulder weakness, leg fatigue, decreased range of motion, and inability to exercise were common, as were difficulty lifting objects and reaching overhead items.
Patients said their lives were at least moderately affected by such problems, as well as by difficulty with stairs, inability to run, difficulty thinking, pain, decreased satisfaction in social situations, decreased performance in social situations, and inability to do specific activities. Emotional and communication issues, as well as hand or finger difficulties, also significantly affected patients’ lives. Fatigue and impaired social performance affected women more than men.
Ninety-four percent of patients said they were aware that their disease was getting worse; about 94% also said they feared the progression. About 14% had had their symptoms mistaken for drunkenness, and 64% for another disease; 37% said they try to hide their condition from friends, and 35% reported they have a hard time getting information about FSHD. "We need to do better providing information," Dr. Heatwole said.
Overall, patients were less likely to get further in school if they had difficulty thinking and communicating, or if they had emotional or hand-use problems. Patients with mobility, hand-use, or eating problems were less likely to be employed.
The findings have been turned into a quality of life assessment tool for upcoming FSHD trials, he said.
Dr. Heatwole said that he had no disclosures.
NEW ORLEANS – It is a good idea to cast a wide net when asking patients with facioscapulohumeral muscular dystrophy about their symptoms because many problems go unrecognized, and some are at least partially treatable, according to a survey of 328 patients in the National Registry of Myotonic Dystrophy and FSHD Patients and Family Members.
For example, patients said not being able to play sports with their children, family, and friends was important. "Dancing is important in this population, too. I would never have guessed it, but it is," said lead investigator Dr. Chad Heatwole, an assistant professor of neurology at the University of Rochester (N.Y.).
For some, not being able to ski or play golf was more important than was difficulty walking.
It might take some creativity to help with such problems, but emotional problems – mostly depression and anxiety – were reported by about 75% of patients, and are readily treated with counseling and medication. These problems "are highly prevalent and an issue we didn’t expect," Dr. Heatwole said at the annual meeting of the American Academy of Neurology.
Usually all we ask is, "How strong are you? Can you go up the stairs?" he said. "These aren’t very amenable to therapy. But pain, fatigue, depression, anxiety, and the different types of emotional problems – you wouldn’t think to ask about these – they’re important but not that addressed."
The roots of the survey were extensive interviews of 20 patients with FSHD (facioscapulohumeral muscular dystrophy) that revealed 250 symptoms and 14 symptom categories of likely importance to the FSHD community. The 328 surveyed patients with FSHD from 46 states had a mean age of 55 years (range, 23-86 years). About half had a job.
More than 90% reported a variety of symptoms and limitations:
• An inability to do previous activities.
• Physical, emotional, or cognitive fatigue.
• Back, chest, or abdominal weakness.
• Mobility or walking limitations.
• Shoulder and arm problems.
• Disease-related changes in body image to the point that patients didn’t like to go swimming because of it.
Shoulder weakness, leg fatigue, decreased range of motion, and inability to exercise were common, as were difficulty lifting objects and reaching overhead items.
Patients said their lives were at least moderately affected by such problems, as well as by difficulty with stairs, inability to run, difficulty thinking, pain, decreased satisfaction in social situations, decreased performance in social situations, and inability to do specific activities. Emotional and communication issues, as well as hand or finger difficulties, also significantly affected patients’ lives. Fatigue and impaired social performance affected women more than men.
Ninety-four percent of patients said they were aware that their disease was getting worse; about 94% also said they feared the progression. About 14% had had their symptoms mistaken for drunkenness, and 64% for another disease; 37% said they try to hide their condition from friends, and 35% reported they have a hard time getting information about FSHD. "We need to do better providing information," Dr. Heatwole said.
Overall, patients were less likely to get further in school if they had difficulty thinking and communicating, or if they had emotional or hand-use problems. Patients with mobility, hand-use, or eating problems were less likely to be employed.
The findings have been turned into a quality of life assessment tool for upcoming FSHD trials, he said.
Dr. Heatwole said that he had no disclosures.
NEW ORLEANS – It is a good idea to cast a wide net when asking patients with facioscapulohumeral muscular dystrophy about their symptoms because many problems go unrecognized, and some are at least partially treatable, according to a survey of 328 patients in the National Registry of Myotonic Dystrophy and FSHD Patients and Family Members.
For example, patients said not being able to play sports with their children, family, and friends was important. "Dancing is important in this population, too. I would never have guessed it, but it is," said lead investigator Dr. Chad Heatwole, an assistant professor of neurology at the University of Rochester (N.Y.).
For some, not being able to ski or play golf was more important than was difficulty walking.
It might take some creativity to help with such problems, but emotional problems – mostly depression and anxiety – were reported by about 75% of patients, and are readily treated with counseling and medication. These problems "are highly prevalent and an issue we didn’t expect," Dr. Heatwole said at the annual meeting of the American Academy of Neurology.
Usually all we ask is, "How strong are you? Can you go up the stairs?" he said. "These aren’t very amenable to therapy. But pain, fatigue, depression, anxiety, and the different types of emotional problems – you wouldn’t think to ask about these – they’re important but not that addressed."
The roots of the survey were extensive interviews of 20 patients with FSHD (facioscapulohumeral muscular dystrophy) that revealed 250 symptoms and 14 symptom categories of likely importance to the FSHD community. The 328 surveyed patients with FSHD from 46 states had a mean age of 55 years (range, 23-86 years). About half had a job.
More than 90% reported a variety of symptoms and limitations:
• An inability to do previous activities.
• Physical, emotional, or cognitive fatigue.
• Back, chest, or abdominal weakness.
• Mobility or walking limitations.
• Shoulder and arm problems.
• Disease-related changes in body image to the point that patients didn’t like to go swimming because of it.
Shoulder weakness, leg fatigue, decreased range of motion, and inability to exercise were common, as were difficulty lifting objects and reaching overhead items.
Patients said their lives were at least moderately affected by such problems, as well as by difficulty with stairs, inability to run, difficulty thinking, pain, decreased satisfaction in social situations, decreased performance in social situations, and inability to do specific activities. Emotional and communication issues, as well as hand or finger difficulties, also significantly affected patients’ lives. Fatigue and impaired social performance affected women more than men.
Ninety-four percent of patients said they were aware that their disease was getting worse; about 94% also said they feared the progression. About 14% had had their symptoms mistaken for drunkenness, and 64% for another disease; 37% said they try to hide their condition from friends, and 35% reported they have a hard time getting information about FSHD. "We need to do better providing information," Dr. Heatwole said.
Overall, patients were less likely to get further in school if they had difficulty thinking and communicating, or if they had emotional or hand-use problems. Patients with mobility, hand-use, or eating problems were less likely to be employed.
The findings have been turned into a quality of life assessment tool for upcoming FSHD trials, he said.
Dr. Heatwole said that he had no disclosures.
FROM THE ANNUAL MEETING OF THE AMERICAN ACADEMY OF NEUROLOGY