Cases/Genetics

Autosomal Recessive Ataxia Discussing Risks to Her Children — Free SCA Practice Case

Woman with Autosomal Recessive Ataxia discussing risks to her children

Station Timer

12:00

Golden Minute

Initial Introduction

•Introduce yourself

•Ask an open question — "How can I help you today?"

•Listen — don't interrupt

•Catch early cues

Data Gathering

History, ICE & Diagnosis

Clinical Management

Diagnosis, Plan & Decisions

Safety Net

Follow-up & Close

12:00

Golden Minute

Materials for Candidate

Please review before starting the consultation

Patient Profile

Full Name

Helen Clarke

Age

42 years

Consultation Type

Video

Age

42 (DOB: 18/07/1983)

Situation

Video Consultation.

Reason for Encounter

"Patient wants to discuss a recent neurology clinic letter. The letter suggests a diagnosis of an autosomal recessive cerebellar ataxia. She is extremely anxious about the risk to her children."

Medical Records

●PMH: 2-year history of progressive clumsiness, poor balance, and slightly slurred speech.
●Medications: None.
●Allergies: NKDA.
●Family History: Parents alive and well. No known neurological diseases in the family.

Recent Notes

●Consultant Neurologist Letter (Attached): "Thank you for referring Helen. Her clinical presentation and MRI showing cerebellar atrophy are highly suggestive of an early-onset cerebellar ataxia. Given the lack of vertical family history, this is almost certainly an autosomal recessive inheritance pattern (genetic panel pending). She was understandably overwhelmed, so I have asked her to discuss the implications for her children with you in the first instance."

Patient Script

For the friend playing the patient role

Character Overview: You are Helen. You are devastated by the diagnosis but your primary focus is entirely on your two teenage children (aged 14 and 16). When you saw the word "genetic" in the letter, you assumed the worst—that you have passed a degenerative brain disease directly to them. You are feeling incredibly guilty. You are a secondary school art teacher and have always been active and hands-on. The condition is already affecting your ability to work and live normally, but right now your anxiety about your children eclipses everything else.

Opening Sentence: "Hello Doctor. Thank you for fitting me in. I got the letter from the neurologist about my balance problems. He says it's 'autosomal recessive cerebellar ataxia.' I know what that means for me... but it says it's genetic. I am terrified. Am I going to watch my kids get this too? Have I passed it on to them?"

History if Asked (Data Gathering Phase)

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The Children:
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"I have a son who is 16 and a daughter who is 14. They are perfectly healthy right now, very sporty. But I was fine at their age too!"
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The Husband/Partner:
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"My husband, Mark, is perfectly healthy. There's nothing like this in his family either."
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Consanguinity Check: "No, Mark and I aren't related. We met at university." (Crucial question for recessive conditions).
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Her Own Family:
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"My parents are in their 70s and fine. I have one brother, he's 40, and he's completely normal. That's why I don't understand how this is genetic if nobody else has it."

ICE — Ideas, Concerns, Expectations

(The patient does not volunteer these unprompted. This content surfaces only if the candidate directly explores her perspective.)

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Ideas: Helen believes "genetic" means her children will inevitably develop the same condition. She has no understanding of recessive inheritance and assumes that because she has it, her children will too — it is just a matter of time. "I looked it up and it said it's passed down in families. If it's in my genes, it's in theirs — that's how it works, isn't it?"
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Concerns: Her overwhelming concern is guilt — that she has unknowingly condemned her children to a progressive neurological disease. Beneath that sits a secondary fear that her own condition will deteriorate and she will become a burden. "I can't stop thinking that I've done this to them. What kind of mother gives her kids a brain disease?"
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Expectations: She wants absolute reassurance that her children will not develop the condition, ideally through immediate testing. She also wants the doctor to explain the letter in plain language — the neurologist's explanation went over her head. "I just need someone to tell me, in words I can understand, whether my children are safe. And if there's a test, I want it done now."

If Asked — Medical History and Medications

(Cross-referenced from the Candidate Brief. The patient responds in her own words if directly asked.)

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Progressive symptoms (2-year history): "It started about two years ago. I kept tripping over things — I thought I was just being clumsy. Then my balance got worse, and my husband noticed my speech was a bit slurred sometimes, especially when I'm tired. That's when my GP referred me."
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MRI findings: "They did a brain scan. The neurologist said something about my cerebellum — the back part of my brain — shrinking. That was terrifying to hear."
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Medications: "I'm not on any medication at the moment. The neurologist said there isn't really a tablet for this, which was hard to hear."
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Allergies: "No, no allergies to anything."
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Genetic testing: "He mentioned a genetic panel — I think it's a blood test they've sent off. I haven't had the results yet."

Social History and Lifestyle Impact

(Volunteered naturally in conversation, not delivered as a monologue.)

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Occupation: Helen is a secondary school art teacher. She has been teaching for 18 years and loves her job.
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Lifestyle impact of the condition: "I'm an art teacher, and it's starting to show at work. My hands aren't as steady as they were — I was demonstrating brush technique last week and the students noticed my hand shaking. I nearly fell over in the corridor last month and a Year 9 asked if I was drunk. I had to laugh it off but I was mortified. I've stopped driving to school because I don't feel safe — Mark drops me off now, which means he has to rearrange his whole morning. At home, I can't even carry a cup of tea across the room without spilling it. I used to run — I did a half marathon three years ago — and now I can barely walk in a straight line."

If Asked — Associated Symptoms

(The patient responds only if directly asked about these symptoms. Informed by NICE CKS and Association of British Neurologists (ABN) guidance on cerebellar ataxias.)

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If asked about visual problems: "Now you mention it, things do seem a bit jumpy sometimes when I'm trying to read — like the words move. I thought I just needed new glasses."
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If asked about swallowing difficulties: "Not really — I sometimes feel like food goes down the wrong way, like a cough when I'm eating, but it doesn't happen often."
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If asked about tremor or shaking: "My hands are a bit shaky, especially when I'm reaching for something. It's not constant, but it's definitely worse than it used to be."
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If asked about headaches: "No, I don't really get headaches."
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If asked about numbness or tingling in hands or feet: "No, nothing like that. My hands are clumsy but I can feel everything normally."
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If asked about urinary symptoms: "No, nothing like that at all."
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If asked about memory or concentration problems: "I don't think so — I can still plan my lessons and remember things fine. I just can't physically do what I used to."
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If asked about fatigue: "Yes, I am absolutely shattered by the end of the day. I don't know if that's the condition or just the stress of it all, but I have no energy left by teatime."
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If asked about mood or low mood: "I've been really down since the diagnosis, yes. I cry most evenings. But I think that's understandable given what's happening, not depression as such."
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If asked about muscle stiffness or spasms: "No, nothing like that. It's more the clumsiness and the balance."
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If asked about hearing problems: "No, my hearing is fine."
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If asked about seizures or blackouts: "No, never. Nothing like that."
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If asked about weight loss: "No, my weight has been stable."
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If asked about alcohol intake: "I have the odd glass of wine at the weekend, nothing heavy. Maybe one or two a week."
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If asked about smoking: "No, I've never smoked."

Responses to Management (The Negotiation Phase)

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If the Doctor explains that she has passed ONE faulty gene to them:
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Reaction: Anxious. "So they do have the faulty gene? Does that mean they will definitely get it when they are my age?" (Needs clear explanation of carrier vs. affected).
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If the Doctor explains they will only be "Carriers" (Assuming husband is healthy/non-carrier):
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Reaction: Huge relief, but still cautious. "Are you absolutely sure? So they won't get sick? But what about when they have children?"
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If the Doctor uses too much jargon (e.g., "phenotype", "alleles", "homozygous"):
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Reaction: Confused. "I'm sorry Doctor, I don't understand. Are my kids safe or not?"
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If the Doctor suggests testing the children right now:
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Reaction: "Can we test them today? I just want a simple blood test to know they are safe." (Doctor must explain that we don't test minors for adult-onset carrier status without clinical genetics input).

Mark Scheme

Domain 1: Data Gathering and Diagnosis

0 / 16 indicators checked+0−0

Positive (0/8)

Negative (0/8)

Domain 2: Clinical Management and Medical Complexity

0 / 22 indicators checked+0−0

Positive (0/11)

Negative (0/11)

Domain 3: Relating to Others

0 / 14 indicators checked+0−0

Positive (0/7)

Negative (0/7)

Clinical Learning Points

Understanding Autosomal Recessive (AR) Inheritance

●The Mechanism: Every person has two copies of most genes — one inherited from each parent. In autosomal recessive (AR) conditions, a person must inherit two faulty copies to develop the disease. A single faulty copy is not enough to cause illness.
●Why Helen is affected despite no family history: Both of Helen's healthy parents must each be silent carriers (one working copy, one faulty copy). By chance, they both passed their faulty copy to Helen. This is the classic AR pattern — the disease appears to 'skip generations' because carriers are phenotypically normal and often unaware of their status. It is one of the most commonly misunderstood aspects of genetic disease.
●Helen's brother: An unaffected sibling of an affected individual in an AR condition has a 2-in-3 probability of being a carrier (since the one-in-four chance of being unaffected-and-not-a-carrier is excluded). This is worth explaining to Helen and flagging for Clinical Genetics.

The Risk to Helen's Children

●Helen has two faulty copies of this gene. She can therefore only pass a faulty copy to her children — every child is an obligate carrier (100% probability of inheriting one faulty copy from her).
●Whether the children develop the disease depends entirely on whether Mark also carries a faulty copy of the same gene. If he does not, the children inherit one faulty copy from Helen and one working copy from Mark — they are carriers only, and will not develop the disease.
●Since Mark is healthy, unrelated to Helen (no consanguinity), and has no family history of the condition, his probability of carrying this specific rare mutation is very low. The exact population carrier frequency depends on the specific gene mutation (to be confirmed by Helen's genetic panel), but for most rare AR ataxias the carrier frequency is well under 1 in 100.
●Quantifying residual risk: In the unlikely event Mark is a carrier, each child would have a 1-in-2 (50%) chance of inheriting two faulty copies and being affected. This conditional risk should be explained clearly — but the prior probability of Mark being a carrier must be emphasised to contextualise it.
●Implications for the children's own families: As carriers, if the children's future partners are not carriers of the same gene — overwhelmingly likely for a rare AR condition — their children will not develop the disease. Genetic counselling when they reach reproductive age is recommended.

Testing: Who, When, and Why

●Do not test the children for carrier status in primary care. UK guidelines (and the consent framework underpinning genetic testing) do not support predictive carrier testing of healthy minors for adult-onset conditions. Children should be allowed to reach adulthood and make their own autonomous, informed decision about whether they wish to know their carrier status — particularly given the reproductive planning implications.
●The priority test is Mark's. Once Helen's specific gene mutation is confirmed by the neurologist's panel, Mark should be referred to Clinical Genetics for carrier testing. A negative result in Mark effectively eliminates the risk of the children developing the disease.
●Explaining this to Helen: Her request for immediate testing is understandable and should be validated, not dismissed. Frame the Clinical Genetics referral as the route to the reassurance she is seeking — the appropriate pathway, not a barrier.

Referral to Clinical Genetics

●Refer Helen and Mark to Clinical Genetics for formal genetic counselling. The GP's role in this consultation is initial risk assessment, reassurance, and plain-language explanation — definitive genetic management belongs with specialists.
●Clinical Genetics will: confirm the inheritance pattern from the genetic panel, offer Mark carrier testing, provide formal family counselling (including implications for Helen's brother), and coordinate reproductive advice when the children reach adulthood.
●Do not attempt to manage genetic counselling in primary care alone, and do not refer Helen without including Mark in the referral.

Managing Helen's Own Condition

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There is no curative treatment for cerebellar ataxia, but this does not mean nothing can be done. A clear multidisciplinary management pathway exists and should be explained to Helen:
- ●Neurology: Ongoing specialist follow-up; monitoring of disease progression; review of genetic panel results.
- ●Physiotherapy: Balance retraining, gait rehabilitation, and fall prevention — directly relevant to Helen's functional difficulties.
- ●Occupational Therapy: Assessment of workplace adaptations (she is a teacher with physical job demands), home safety modifications, and aids for daily living (e.g. managing cups, kitchen tasks).
- ●Speech and Language Therapy: If dysarthria or swallowing difficulties progress (she already reports mild dysphagia on direct questioning).
- ●Ataxia UK: A specialist charity providing peer support, practical guidance, and signposting — a meaningful resource for a patient facing a progressive, isolating diagnosis.
●Avoid stating 'there is no treatment' without immediately contextualising what multidisciplinary support is available. This is a common candidate error and leaves the patient feeling abandoned.

Occupational and DVLA Considerations

●Helen has already self-restricted from driving (she no longer drives to school). Candidates should recognise that a progressive neurological condition affecting balance, coordination, and motor control has DVLA notification implications. Helen has a legal duty to inform the DVLA of her diagnosis; the GP should advise her of this sensitively.
●Occupational health input may be appropriate given the physical demands of her teaching role and the progression of her symptoms. Workplace adjustments and a formal occupational health assessment should be considered and discussed.

Psychological Support

●Helen describes crying most evenings and significant distress since her diagnosis. This sits clearly within the territory of an adjustment disorder or reactive depression and warrants explicit acknowledgement and a structured response — not simply normalising it as 'understandable.'
●Appropriate options include: a dedicated follow-up appointment to assess her emotional wellbeing, referral to psychological therapies (IAPT/Talking Therapies), peer support through Ataxia UK, and consideration of whether antidepressant therapy may be warranted if low mood persists.
●Do not conflate the guilt (a specific cognitive distortion about responsibility for her children's genes) with general low mood — both deserve targeted attention.

Safety-Netting and Follow-Up

●Arrange follow-up specifically to: review the genetic panel results when they arrive from neurology, assess Helen's mood and functional status, and confirm the Clinical Genetics referral has been actioned.
●Advise Helen to seek urgent review if she develops significant new symptoms suggesting rapid disease progression — in particular, worsening swallowing difficulties (aspiration risk), sudden deterioration in balance leading to falls, or marked worsening of speech.
●Ensure Helen knows how to contact the practice between appointments if her symptoms worsen or her emotional wellbeing deteriorates significantly.

Free MRCGP SCA practice case for GP registrars covering Autosomal Recessive Ataxia Discussing Risks to Her Children — Genetics. Includes candidate brief, patient script, marking scheme mapped to the RCGP SCA marking domains, and learning points. Built directly from the RCGP curriculum topic stations listed under "How this might be tested in the MRCGP SCA," part of a free library of 79 SCA practice cases for simulated consultation assessment preparation.

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