Céline Dion and stiff-person syndrome: who coordinates rare-disease care in Brazil’s SUS?

By Ramon Martins Andrade, attorney (OAB/RJ 188.374)

English translation of an article first published in Portuguese: read the original.

On 8 December 2022, Céline Dion posted two videos on Instagram, in French and in English, to say that she had stiff-person syndrome and that she would postpone the Courage tour. According to the Associated Press, she said that the spasms affected every aspect of her daily life, sometimes made walking difficult and did not allow her to use her vocal cords to sing the way she was used to. The spring 2023 shows were moved to 2024; the summer shows were cancelled. In June 2024, she explained to NBC why she had decided to speak: “I could not do this anymore”. The report, citing her interview with Vogue, places the first signs in 2008, with difficulty controlling her voice and, later, muscle stiffness. In the same month the documentary I Am: Celine Dion, directed by Irene Taylor, premiered on Prime Video.

The account is hers, and it ends there: nothing is known, and nothing is asserted here, about the doctors, the services or the treatment choices of that journey. What it allows is a look at the shape of the problem: a rare disease, which mimics others, whose best-evidenced treatment is expensive and is not, in Brazil, covered by any protocol of its own. The article examines what science knows, what the SUS (Brazil’s public health system) and the health plan owe to those who have a rare disease without a clinical protocol, how three countries organized that care and what the law offers to those who spent years without a name for what they felt.

A rare disease that disguises itself as others

Stiff-person syndrome is a neurological disorder of probable autoimmune origin, marked by progressive stiffness of the muscles of the trunk and legs and by painful spasms triggered by noise, touch or startle. The NINDS, the United States neurology institute, records that it affects twice as many women as men and that it is “often misdiagnosed” as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness or anxiety. The review by Bose and Jacob in Practical Neurology (2025) associates the disease above all with antibodies against the enzyme glutamic acid decarboxylase (anti-GAD) and sounds the warning that matters to the law: diagnostic delay “is often associated with irreversible disability”.

For decades, the estimate repeated was one to two cases per million inhabitants. Recent population studies suggest a higher number, without taking the disease out of the rare category. In the United States veterans’ health system, Galli and colleagues (Muscle & Nerve, 2018) measured a point prevalence of 2.06 per million among cases with anti-GAD65; in a Colorado hospital system with 2.8 million people, Crane and colleagues (Neurology, 2024) confirmed 59 cases and arrived at 2.11 per 100,000, or 1.36 under the strictest criteria, with the caveat that it is a single system. Even the highest number is far below the threshold that Brazilian policy uses to call a disease rare: 65 people in every 100,000.

The delay in reaching the name is the rule in the literature. A systematic review of 239 cases with psychiatric symptoms (Nasri and colleagues, Journal of the Academy of Consultation-Liaison Psychiatry, 2023) found a mean diagnostic delay of 4.7 years, with anxiety in 56% of patients; the review by Caffrey and colleagues (2021), with small samples, linked the delays to the attribution of the symptoms solely to a psychiatric cause. Diagnosis depends on someone thinking of the hypothesis: neurological examination, antibody testing and electromyography. And there are still no consensus diagnostic criteria, as the 2026 review by the Johns Hopkins University group (Riveros, Buyukkurt and Newsome, Journal of Neuroimmunology) records.

In treatment, the reference study is that of Dalakas and colleagues in the New England Journal of Medicine (2001): 16 patients with anti-GAD65 received, in random order, intravenous human immunoglobulin (IVIG) or placebo for three months, with crossover after an interval. Stiffness fell with immunoglobulin and returned with placebo; eleven patients came to walk more easily or without support, fell less and resumed work or household tasks. The authors’ conclusion sums up the legal problem: a therapy that is “well tolerated and effective, though expensive”. An observational follow-up (Bose and colleagues, Movement Disorders Clinical Practice, 2021) showed improvement sustained for almost five years. With immunosuppressants, the story is different: the controlled trial of rituximab published in the Annals of Neurology in 2017, the largest ever conducted in the disease according to the authors, found no statistically significant difference from placebo. Alongside immunotherapy are the drugs that enhance the action of GABA. The most studied front is also the most expensive.

No protocol in Brazil, a written rule in England

In the official list of Clinical Protocols and Therapeutic Guidelines of the Ministry of Health, consulted on 15 October 2026, there is no protocol for stiff-person syndrome; those on spasticity and on dystonias deal with other conditions. The absence has an immediate consequence, because Lei 8.080/1990 (the Organic Health Law) organizes pharmaceutical assistance on the basis of the protocols: art. 19-M defines comprehensive therapeutic assistance as the dispensing of medicines “whose prescription is in conformity with the therapeutic guidelines defined in a clinical protocol” and, in its absence, refers to art. 19-P, which requires dispensing on the basis of the lists of medicines of the federal, state and municipal health managers. A disease without a protocol is not left outside the SUS; it is left without a written script on who provides what.

The contrast with the English national health service shows what is missing. NHS England’s policy on the use of immunoglobulin, of March 2025, includes stiff-person syndrome and its variants among the routinely commissioned indications, with written rules: diagnosis by a consultant neurologist; supporting criteria, such as anti-GAD antibodies or compatible electromyography; an initial dose of at most 4 g/kg, in at least two courses over four to eight weeks; and continuation conditional on clinically significant improvement in at least two measures, among them stiffness, 10-metre walk time and number of spasms per day. One may disagree with each criterion; the point is that the patient knows, in advance, what needs to be demonstrated.

What the SUS owes to those with a rare disease and no protocol

Ordinance GM/MS No. 199 of 30 January 2014 established the National Policy for Comprehensive Care of People with Rare Diseases. It considers rare a disease that affects up to 65 people in every 100,000 (art. 3), promises access, “in a timely manner”, to the available diagnostic and therapeutic means (art. 5, V) and places autoimmune diseases within the axis of those of non-genetic origin (art. 12, II). The decisive point is art. 13, § 1: primary care, “responsible for the coordination of care”, is charged with “referring the person with a suspected rare disease in a timely manner for diagnostic confirmation” (item V) and with “coordinating and maintaining the care of people with rare diseases when referred to other points of the RAS”, the health care network (item VI). The Rare Disease Reference Services are responsible for “specialized multidisciplinary clinical follow-up” (arts. 14 and 16, I). Referring does not end the bond, as the firm examined in the case of the patient who got lost between the primary care unit (UBS) and the specialist (in Portuguese); the accredited network and genetic diagnosis are covered in the article on rare disease in the SUS (in Portuguese).

The medicine is the hardest part. If immunoglobulin is prescribed for an indication that is not in its Anvisa (the Brazilian health regulator) registration, which is checked in the package insert of each brand, art. 19-T of Lei 8.080 forbids the SUS from paying for use “not authorized” by the agency, save for the exception of Lei 14.313/2022: use different from the registration that is “recommended by Conitec” (the national health-technology assessment committee), with demonstrated evidence and “standardized in a protocol established by the Ministry of Health”. Incorporating a medicine or creating a protocol falls to the Ministry, advised by Conitec (art. 19-Q), in a procedure of 180 days, extendable by 90 (art. 19-R). The request for incorporation is, therefore, a legitimate route, and not only a lawsuit.

When the request reaches the courts, the yardstick is that of the Supreme Court. In Theme 6 of general repercussion, the STF (Supreme Federal Court) held that the absence of a medicine from the SUS lists “prevents, as a general rule, the supply of the drug by court order, regardless of cost”, allowing the exceptional grant of a registered medicine upon cumulative requirements, the burden of which lies on the claimant: an administrative denial; unlawfulness of the non-incorporation, absence of a request for incorporation or delay in its analysis; impossibility of substitution by a medicine on the lists; efficacy proven by randomized clinical trials, systematic review or meta-analysis; a reasoned medical report; and financial inability. Binding Precedent (Súmula Vinculante) 60, approved on 16 September 2024, provides that “the administrative request and analysis of drugs in the public health network” and litigation must observe the interfederative agreements ratified in Theme 1.234; according to a technical note of the Court of Justice of Minas Gerais, the holding takes to the Federal Courts the actions on registered, non-incorporated medicines whose annual treatment cost reaches 210 minimum wages. The workflow is set out in the articles on Binding Precedent 60 (in Portuguese) and the prior administrative request (in Portuguese). Applied to the syndrome, the evidence requirement weighs in both directions: there is a small randomized trial in favour of immunoglobulin and a negative randomized trial for rituximab.

And in the health plan

In private health insurance, the first question is whether immunoglobulin is on the ANS list of mandatory coverage (the “rol”) for that indication: in Annex II of Normative Resolution (RN) 465/2021, consolidated up to RN 675/2026, there is no utilization guideline of its own for it. The second is whether the use is off-label: art. 24 of RN 465, as worded by RN 555/2022, requires coverage of a registered medicine for an indication other than that in the package insert when its availability in the SUS has been approved, which, for this syndrome, has not happened. What remains is art. 10, § 13, of Lei 9.656/1998 (the Health Plans Act) (Lei 14.454/2022), for treatment prescribed outside the rol, read with the five cumulative requirements set by the STF in ADI 7.265, on 18 September 2025: prescription by the treating physician; no express denial by the ANS (the health-plan regulator) and no pending analysis for inclusion; no adequate alternative in the rol; scientific proof of efficacy and safety; and Anvisa registration. In court, proof is further required that the health-plan operator denied, delayed excessively or failed to act.

There is one point that favours the infusion. Art. 10, VI, of Lei 9.656 excludes medicines for home use from the reference plan, and the Third Panel of the STJ (Superior Court of Justice) upheld that exclusion in June 2025, with the express caveat that there is coverage when administration requires direct intervention or supervision by a health professional. Intravenous immunoglobulin is given in an assisted setting; the subcutaneous version, which can be done at home, is a different discussion, dealt with in the article on immunoglobulin in the health plan (in Portuguese). As to time, ANS RN 566/2022 sets up to 14 working days for a consultation in specialties such as neurology (art. 3, II) and up to 10 working days for outpatient tests such as electromyography (art. 3, XI), with a protocol number (art. 12) and reimbursement if the deadline is not met (art. 10). The orphan drug outside the SUS and the rol is covered in the article on the rare-disease medicine that is not yet in the SUS or in the rol (in Portuguese).

Comparative law: three ways of organizing the rare

The countries that deal best with rare disease do not offer every medicine to everyone; they write down beforehand who decides, by what criterion and where the patient is seen. The three examples, read in the official sources, show different paths.

1. United States: incentives for developers, coverage by evidence

The Orphan Drug Act of 1983 defines as rare a disease that affects fewer than 200,000 people in the country (21 U.S.C. § 360bb) and gives the first manufacturer approved for the indication seven years of market exclusivity (§ 360cc), to attract investment to a disease that, on its own, does not pay for the development of the medicine. Coverage is another matter: in Medicaid, the statute accepts as a “medically accepted indication” not only the use approved by the regulatory agency but also use supported by citations in recognized drug compendia (42 U.S.C. § 1396r-8(k)(6)). Off-label use can be paid for when the evidence is documented, by general rule and not case by case.

2. France: a national plan, reference centres and networks by specialty

France adopts the European definition, of one person in every two thousand, and estimates more than three million people with a rare disease in the country. Since 2004 it has had four national plans. The result is a network: according to the Ministry of Higher Education and Research, 603 reference centres (under 122 coordinators certified in 2023) and 1,708 centres of competence, organized into 23 filières de santé maladies rares, national networks by group of diseases. The fourth plan, launched in February 2025 with about 36 million euros in new funding, aims to “reduce diagnostic wandering” and widen access to treatments, including through the repurposing of existing medicines. The patient knows where to go.

3. United Kingdom: a written policy for each immunoglobulin indication

In England, immunoglobulin is treated as a scarce resource, because it comes from donated plasma. NHS England’s 2025 policy, which replaced the 2011 clinical guidelines and the 2021 and 2024 versions, states that any indication not detailed in it is deemed not commissioned. Every prescription goes through an electronic form and through sub-regional panels; for stiff-person syndrome, prior approval by the panel is mandatory, and outcomes go into a national database. The same policy records that rituximab “is likely to be equally effective” but is not commissioned for this indication. The question is answered in writing before the first dose, and not by a judge after the denial.

Brazil has the French piece on paper, the network of Ordinance 199, but not the English one: no protocol says when immunoglobulin should be offered in this disease, to whom and with what criterion for continuation. In its absence, each patient has to prove alone what a protocol could have written for everyone.

From late diagnosis to liability

The question that the story of the years without a name puts to the law is not “does a rare disease give a right to compensation”, but “what should have been done at each consultation, and was it?”. The first layer is the record. The Code of Medical Ethics forbids the physician from failing to use the diagnostic means “scientifically recognized and within his reach” (art. 32), from failing to inform the patient of the diagnosis, prognosis, risks and aims of treatment (art. 34) and from failing to keep a medical record with dated entries or denying access to it (arts. 87 and 88). Lei 15.378/2026 (the Patients’ Rights Statute) put this on the patient’s side: timely care (art. 8), participation in the treatment plan (art. 11), information that is “accessible, up to date and sufficient” (art. 12, § 1), a second opinion (art. 18) and a copy of the medical record without having to give reasons (art. 19); in the SUS, Lei 13.460/2017 (art. 6, III) already guaranteed access to one’s own information, and Lei 8.080 (art. 7, II) defines comprehensiveness as an “articulated and continuous set of actions and services”. In a disease that is confused with anxiety, the medical record shows who thought of the hypothesis, when, and what they did with it.

The second layer is the standard of conduct. Rarity weighs in favour of whoever provided the care: no clinician can be required to recognize at the first consultation a syndrome of a few cases per hundred thousand people. What can be required is a reaction proportionate to the signs, such as spasms triggered by sound or touch, unexplained falls and stiffness that does not ease, and the timely referral that Ordinance 199 requires. The liability of the hospital, the clinic or the health-plan operator is strict as regards the services that are their own (CDC, the Consumer Protection Code, art. 14); when the defect lies in the physician’s act, proof of the physician’s fault is required (art. 14, § 4). In the SUS, the failure may lie less in the consulting room and more in the network: the referral that does not move, the reference service that does not exist in the region, nobody coordinating the case after diagnosis.

The third layer is the harm. When the delay is avoidable and takes from the patient a serious and real possibility of a better course, the STJ allows compensation for the loss of a chance. The reference precedent is REsp 1.254.141/PR (Third Panel, Justice Nancy Andrighi reporting, decided on 4 December 2012), a case of inadequate treatment of breast cancer, not of rare disease, whose headnote sets the limit that applies to all: “The chance, however, can never reach the value of the good that was lost”. In the syndrome, the lost chance has a content described by the literature, the disability associated with delay, but the causal link is proven by expert evidence, case by case. At work, the disease does not appear by name in the list of art. 151 of Lei 8.213/1991 (the Social Security Benefits Act); the general regime applies, with the first fifteen days paid by the employer (art. 60, § 3) and an INSS (the national social-security institute) medical examination afterwards.

Before deciding

In my view, in rare disease the most useful legal question is rarely “am I entitled to this medicine?” and is almost always “who, in the network, answers for me now?”. Ordinance 199 has already named that responsible party, the primary care that coordinates and the reference service that follows the case, and it is the first to be called upon. After diagnosis, three steps organize the rest: asking the neurologist for a report with tests, antibodies, electromyography, functional limitation, treatments tried and the criterion for measuring response, a document that serves Theme 6, ADI 7.265 and any request for incorporation; filing the request through the administrative route and keeping the written answer, without which Binding Precedent 60 closes the door; and keeping a diary of the attacks, which turns the symptom into evidence. If the referral has stalled, if the infusion was denied or interrupted, or if nobody has taken on the coordination, get in touch with the firm: the analysis starts from the specialist’s indication and the answers received, and does not replace medical assessment. The general route is set out in the guide to the SUS (in Portuguese).

About the author

Ramon Martins Andrade (OAB/RJ 188.374) is a lawyer who graduated from UFRJ in 2011, with master’s degrees from Université Sorbonne Nouvelle and from the Naval War College (EGN, Brazilian Navy). He is currently a researcher in Human Rights and Health at ENSP/Fiocruz.

This content is for information and education only. It does not constitute legal advice, advertising of results or any guarantee of outcome, under Rule 205/2021 of the Brazilian Bar Association (OAB).