Progressive monogenic disease
The anchor question: the diagnosis is known and the disease progresses. What does good care look like around the specialist's plan? For myotonic dystrophy type 1, FSHD, the limb-girdle dystrophies and the adult dystrophinopathies, it looks like coordination: the ECG and PFTs on schedule, an anesthesia warning on the chart, and a plan the patient helped write.
Who this cohort covers
Adults with a confirmed, progressive, multiorgan monogenic disease where supportive care is the mainstay: DM1 and DM2, facioscapulohumeral muscular dystrophy, the limb-girdle dystrophies, Becker and adult Duchenne muscular dystrophy, and female dystrophinopathy carriers with cardiac risk. Where a disease-specific therapy exists, as with glucocorticoids and the genetic therapies in Duchenne, the neuromuscular center owns it; this map covers the organ surveillance around it. The neurology is usually followed. The heart, lungs, eyes, endocrine glands, gut and anesthesia risk fall between visits, and that is where the anchor does the most good.
DM1 alone is more common than the textbook figure. Screening 50,382 consecutive New York newborns found a DM1-range CTG expansion in 1 in 2,100, up to five times earlier estimates.1 Most of the mortality is respiratory failure and sudden death: in 406 adults with DM1 followed for a mean 5.7 years, 32 of 81 deaths were from respiratory failure and 27 were sudden. A severe ECG abnormality (rhythm other than sinus, PR 240 ms or more, QRS 120 ms or more, or second- or third-degree AV block) carried a relative risk of sudden death of 3.30.2
Care map
| Role | Year 1, Establish | Year 2, Treat | Year 3, Sustain |
|---|---|---|---|
| Anchor | Genotype on file. Problem list by organ system, with a named owner for each organ's surveillance. Anesthesia risk flagged in the chart and in the patient's hands: in DM1, opioids and anesthetic agents cause adverse reactions and most serious complications come after the procedure;3 in Duchenne, rhabdomyolysis, hyperkalemia and cardiorespiratory decompensation around surgery, with cardiology and pulmonology consulted beforehand.4 For Duchenne, the emergency guidance from the care considerations on file for urgent care and the ED.5 | Run the surveillance calendar below. Medication review for drugs that worsen the disease; GeneReviews lists statins as an agent to avoid in DM1 for muscle pain and weakness.6 | Annual review against the patient's goals. Advance care planning, revisited as function changes, with shared decisions on ventilation and devices, including end-of-life arrhythmia management.7 8 |
| Genetics | Confirm the molecular diagnosis and subtype; arrhythmia risk and management are set disorder by disorder.8 In DM1, counsel on expansion across generations: longer alleles can mean earlier onset and more severe disease in the child.6 | Cascade testing. Female relatives of a Duchenne proband: carrier testing, because Duchenne carriers need cardiac imaging of their own.4 | Screen new trials and therapies against the diagnosis each year. |
| Specialists | Neuromuscular center for the primary disease. Cardiology for DM1 and the dystrophinopathies, with electrophysiology for conduction disease;3 8 in FSHD without cardiac symptoms, routine cardiac screening is not needed.9 Pulmonology with PFTs; sleep medicine for daytime sleepiness or suspected hypoventilation.3 7 | Ophthalmology: annual slit-lamp exam in DM1;3 dilated indirect ophthalmoscopy in FSHD with a large deletion, for preventable exudative retinopathy.9 Endocrinology for diabetes, thyroid disease or hypogonadism in DM1.3 6 | Follow-up per organ involvement. Palliative care alongside the specialists, not in place of them. |
| Diagnostics | ECG at baseline, then annually in DM1 (the consensus allows annual or every two years), or a 24-hour Holter.3 6 Adult Duchenne: cardiac assessment at least annually, cardiac MRI preferred. Dystrophinopathy carriers: baseline cardiac imaging in early adulthood, preferably MRI, then every 3 to 5 years.4 PFTs at baseline.7 Fasting glucose and HbA1c annually in DM1, with TSH.3 | PFTs every 6 months, which the CHEST panel judged may be beneficial in neuromuscular weakness, and at least every 6 months in any nonambulatory adult with Duchenne.7 4 Polysomnography or overnight oximetry to find sleep-disordered breathing and guide NIV.7 | Repeat on the set intervals; sooner with new symptoms. |
| Therapies | Physical and occupational therapy baseline: ankle-foot orthoses, mobility aids, home safety.6 In FSHD, low-intensity aerobic exercise appears safe and may help.9 | NIV when PFTs or sleep studies call for it; airway clearance and secretion management.7 Dysphagia therapy for oropharyngeal dysphagia in DM1.3 | Equipment review. Mouthpiece ventilation or a move to home mechanical ventilation as needed.7 |
| Behavioral health and nutrition | Screen for depression, anxiety, apathy and daytime sleepiness. In DM1, consider behavioral therapy or CBT for apathy, and modafinil when CNS involvement is the likely cause of sleepiness.3 In FSHD, ask about pain at every visit.9 | Dietitian for dysphagia, weight and constipation.3 6 | Psychosocial support through transitions in work, independence and relationships.5 Ask about caregiver strain. |
| Community | Patient organization introduction. Registry enrollment. | Trial screening and referral. | Disability, employment and home-modification resources. |
Visit one
The map above is the evidence. This is what to do with the patient in the room, in one long visit or two shorter ones. Each line comes from the Year 1 column and carries the same citations.
| Ask | Palpitations, syncope, presyncope. Orthopnea and morning headache. Daytime sleepiness and recurrent pneumonia.3 Swallowing, constipation, vision. Prior anesthesia and how it went.3 Mood, apathy and pain.3 9 Who else in the family is affected or untested. |
| Examine | Functional baseline: gait, transfers, grip. Respiratory pattern and cough strength. Blood pressure and weight. |
| Order | ECG.2 3 PFTs.7 In DM1, fasting glucose, HbA1c and TSH.3 In adult Duchenne or a dystrophinopathy carrier, cardiac MRI.4 |
| Refer | Neuromuscular center if not already followed. Cardiology for DM1 and the dystrophinopathies;3 8 pulmonology and sleep medicine;7 ophthalmology;3 9 PT and OT.6 Where: the specialist, procedural studies, advanced imaging and therapists rosters. |
| Tell the patient | Which organs we're watching, how often, and who owns each one. To tell every anesthetist and surgeon about the diagnosis before any procedure.3 4 In DM1, what expansion across generations means for children.6 |
| Document | Genotype and subtype, the functional baseline, the surveillance calendar with owners, the anesthesia flag, and the date of the first goals-of-care conversation. |
Roster for this cohort
Drawn from the specialist roster (neuromuscular, cardiology and electrophysiology, pulmonology and sleep, endocrinology, ophthalmology), procedural studies (ECG and Holter, PFTs, sleep studies, echo), advanced imaging (cardiac MRI), the therapists roster (PT, OT, speech and swallow), the counselor roster (genetic counselors, psychology), and the resource roster (dietitians, care navigators, social work, patient organizations). Anchors come from the primary care roster. Forming; propose entries in the cohort channel.
Readings
- GeneReviews: Myotonic Dystrophy Type 1, University of Washington, revised 2024.
- Consensus-based care recommendations for adults with DM1 (reference 3) and its quick reference guide; the companion recommendations for pulmonologists (Boentert et al., Respiration 2020, doi:10.1159/000505634).
- DMD care considerations, parts 2 and 3 (references 4 and 5): cardiac, respiratory, emergency and adult transition care.
- 2022 HRS expert consensus on arrhythmic risk in neuromuscular disorders (reference 8), CHEST 2023 guideline on respiratory management in neuromuscular weakness (reference 7), and the AAN FSHD guideline (reference 9).
References
- Johnson NE, Butterfield RJ, Mayne K, et al. Population-based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program. Neurology. 2021;96(7):e1045-e1053. doi:10.1212/WNL.0000000000011425
- Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med. 2008;358(25):2688-2697. doi:10.1056/NEJMoa062800
- Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018;8(6):507-520. doi:10.1212/CPJ.0000000000000531
- Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347-361. doi:10.1016/S1474-4422(18)30025-5
- Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445-455. doi:10.1016/S1474-4422(18)30026-7
- Bird TD. Myotonic dystrophy type 1. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Revised 2024 Nov 14. NBK1165
- Khan A, Frazer-Green L, Amin R, et al. Respiratory management of patients with neuromuscular weakness: an American College of Chest Physicians clinical practice guideline and expert panel report. Chest. 2023;164(2):394-413. doi:10.1016/j.chest.2023.03.011
- Groh WJ, Bhakta D, Tomaselli GF, et al. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022;19(10):e61-e120. doi:10.1016/j.hrthm.2022.04.022
- Tawil R, Kissel JT, Heatwole C, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology. 2015;85(4):357-364. doi:10.1212/WNL.0000000000001783
References retrieved from PubMed on 2026-10-30. Care maps are peer-authored clinical frameworks for network members, not individualized medical advice, and are reviewed at each yearly cycle.