A guide centred on LGMD2C / LGMDR5 for patients and families, with information on the wider LGMD group.
Understand the science. Prepare for conversations. Find your people.
LGMD affects muscles around the shoulders and hips. Its course varies between subtypes and between individuals.
Underlined medical terms have a plain-language explanation. Hover, focus or tap to read it.
LGMD2 is the older umbrella name for A pattern of inheritance in which disease-causing changes affect both copies of a gene, usually one inherited from each parent. The gene is on a chromosome other than a sex chromosome. limb-girdle muscular dystrophies. Many are now described using LGMDR names.
Different genetic changes affect different muscle proteins. Your genetic report can help your specialist identify the subtype and explain what it means.
Symptoms and progression vary. Some subtypes may affect the heart or breathing, so monitoring should be tailored to the individual.
Source: Muscular Dystrophy UK — LGMD overview
Select a term to read a source-based explanation. This guide contains no patient report or invented test result.
A variant of uncertain significance: current evidence cannot establish whether the change causes disease. A VUS alone does not confirm a diagnosis.
Discuss the full report with a genetics professional. Some recessive conditions involve two different variants, one in each gene copy.
Sources: NHGRI genetics glossary and MedlinePlus Genetics.
Genetics glossary (NHGRI) · Understanding test results (MedlinePlus)
Search current and older names, genes and proteins. Confirm your own subtype with your genetics team.
Search 34 source-checked subtype entries: R1–R29 and D1–D5. The ENMC naming reform was published in 2018; later additions are included. This is a reference, not a diagnosis. Classification can change.
34 matches
No match. Check your report spelling or ask your genetics team. An unlisted name does not exclude a genetic condition.
| New name | Older name | Gene / protein | Inheritance |
|---|---|---|---|
| LGMDR1 | LGMD2A | CAPN3Calpain-3 | Recessive (R) |
| LGMDR2 | LGMD2B | DYSFDysferlin | Recessive (R) |
| LGMDR3 | LGMD2D | SGCAAlpha-sarcoglycan | Recessive (R) |
| LGMDR4 | LGMD2E | SGCBBeta-sarcoglycan | Recessive (R) |
| LGMDR5 | LGMD2C | SGCGGamma-sarcoglycan | Recessive (R)Explore ATA-200 research |
| LGMDR6 | LGMD2F | SGCDDelta-sarcoglycan | Recessive (R) |
| LGMDR7 | LGMD2G | TCAPTelethonin | Recessive (R) |
| LGMDR8 | LGMD2H | TRIM32TRIM32 | Recessive (R) |
| LGMDR9 | LGMD2I | FKRPFKRP | Recessive (R) |
| LGMDR10 | LGMD2J | TTNTitin | Recessive (R) |
| LGMDR11 | LGMD2K | POMT1POMT1 | Recessive (R) |
| LGMDR12 | LGMD2L | ANO5Anoctamin 5 | Recessive (R) |
| LGMDR13 | LGMD2M | FKTNFukutin | Recessive (R) |
| LGMDR14 | LGMD2N | POMT2POMT2 | Recessive (R) |
| LGMDR15 | LGMD2O | POMGNT1POMGNT1 | Recessive (R) |
| LGMDR16 | LGMD2P | DAG1Dystroglycan | Recessive (R) |
| LGMDR17 | LGMD2Q | PLECPlectin | Recessive (R) |
| LGMDR18 | LGMD2S | TRAPPC11TRAPPC11 | Recessive (R) |
| LGMDR19 | LGMD2T | GMPPBGMPPB | Recessive (R) |
| LGMDR20 | LGMD2U | CRPPACRPPA / ISPD | Recessive (R) |
| LGMDR21 | LGMD2Z | POGLUT1POGLUT1 | Recessive (R) |
| LGMDR22 | — | COL6A1 / COL6A2 / COL6A3Collagen VI | Recessive (R) |
| LGMDR23 | — | LAMA2Laminin alpha-2 | Recessive (R) |
| LGMDR24 | — | POMGNT2POMGNT2 | Recessive (R) |
| LGMDR25 | LGMD2X | BVESPOPDC1 / BVES | Recessive (R) |
| LGMDR26 | — | POPDC3POPDC3 | Recessive (R) |
| LGMDR27 | — | JAG2Jagged-2 | Recessive (R) |
| LGMDR28 | — | HMGCRHMG-CoA reductase | Recessive (R) |
| LGMDR29 | — | SNUPNSnurportin-1 | Recessive (R) |
| LGMDD1 | LGMD1D | DNAJB6DNAJB6 | Dominant (D) |
| LGMDD2 | LGMD1F | TNPO3Transportin-3 | Dominant (D) |
| LGMDD3 | LGMD1G | HNRNPDLHNRNPDL | Dominant (D) |
| LGMDD4 | LGMD1I | CAPN3Calpain-3 | Dominant (D) |
| LGMDD5 | — | COL6A1 / COL6A2 / COL6A3Collagen VI | Dominant (D) |
Recessive (R): disease-causing changes affect both copies of a gene. Dominant (D): one disease-causing copy can be sufficient. A gene such as CAPN3 can be associated with either pattern; the variant and clinical interpretation matter. Your genetics team can explain the implications for your family.
Some older labels have been reclassified: LGMD1B is associated with Emery–Dreifuss muscular dystrophy, LGMD1C with rippling muscle disease, LGMD2R with myofibrillar myopathy and LGMD2V with Pompe disease. Not every old name has an R/D equivalent.
ENMC · 2018 · MDUK · AFM-Téléthon · 2025 · NCBI · SNUPN / R29 · CRPPA / ISPD · MedlinePlus
Keep a copy of your genetic report. Ask your care team which name and gene apply to you.
Name reference: Current and older LGMD names
ATA-200 is Atamyo Therapeutics’ AAV-based programme for gamma-sarcoglycan-related LGMD. It aims to deliver a functioning copy of SGCG. This programme targets LGMD2C / LGMDR5, not every LGMD subtype.
Registry last updated: 29 January 2026. Sources checked: 8 October 2026. Status and eligibility can change; confirm them with the study team.
In its 13 May 2026 release, Atamyo reported four participants treated and 12-month follow-up for the first two. The company describes the programme as Phase 1b/2.
These are early company-reported observations in a small group. They do not establish long-term safety, lasting benefit or outcomes for other patients.
The Dion Foundation says it supported the U.S. deployment of the trial financially. It does not recruit or enrol participants and cannot guarantee a trial place.
Families can explore its LGMD2C / R5 patient resources and contact list. Joining a contact list is separate from trial enrolment; read the organisation’s consent and privacy information.
Does my confirmed SGCG diagnosis match the study criteria? What risks, follow-up and alternatives should we discuss? Use the official record for full criteria and study contacts.
Children living with LGMD2C / LGMDR5, and their families, deserve to be seen, heard and supported. Help raise awareness of this rare muscular dystrophy and the ways it can affect everyday life.
Sharing reliable information can help more people understand the need for research, care and support. Better treatments remain a goal of ongoing research. Together, we can build understanding and stand alongside children and families.
You do not have to understand everything at once. Start with conversations that help you feel informed and supported.
You do not need to solve everything today. These three steps can help you prepare for your next conversation.
Choose the topics you want to discuss. This builds a conversation checklist, not a referral or a diagnosis. Heart and breathing checks may be needed even without symptoms.
Sudden or severe breathing difficulty, chest pain or fainting needs urgent medical assessment. This checklist is for routine care planning.
Assessment can include a A healthcare professional checks your body, symptoms and medical history, for example by assessing muscle strength and movement., blood tests, genetic testing and sometimes other investigations. A A doctor with expertise in conditions affecting muscles and the nerves that control them. can explain the findings; a A professional who explains genetic test results and inheritance, and helps you consider what they mean for you and your family. can discuss inheritance.
Read MDA's diagnosis guideDiscuss movement, fatigue, mobility aids and home adaptations with your care team. Physiotherapy and occupational therapy can help shape support around your abilities and priorities.
Explore condition managementHeart and The condition affects the muscles used for breathing. Your specialist can advise whether breathing checks are relevant to your subtype. depends on the subtype. Ask your specialist about monitoring, and tell your surgical and anaesthetic team about your LGMD diagnosis before a procedure.
Read the LGMD care overviewResearch is specific to the gene and study. Eligibility, availability and study status can change. Ask your specialist about relevant studies and what participation would involve.
Explore ClinicalTrials.govExplore by daily challenge, not by a stage of disability. A physiotherapist or occupational therapist can assess what is safe and useful for you.
Ask about a chair at a suitable height, a rise-and-recline chair, rails or a stairlift assessment. Plan frequently used items on one level where possible. Avoid improvised lifting or unsupported transfers.
Discuss dressing aids, lightweight utensils, accessible storage or an arm-support assessment. The right equipment should suit your movement and your home.
Try pacing: plan, prioritise and alternate activity with rest before you are exhausted. Ask for help with demanding tasks. New or worsening fatigue should be discussed with your care team.
A mobility aid is a tool for participation, comfort and conserving energy. It is not a measure of your worth.
Fatigue and pacing (MDUK) · Posture and everyday support (MDUK)
Living with LGMD is a shared journey. As a partner, parent, or loved one, your role is vital — but you don't have to carry everything on your own.
Feelings of loss can return as everyday abilities change. Make room for those feelings without expecting one fixed way of coping. Talk about what each person needs, protect time together outside caregiving tasks, and seek counselling or peer support when the burden becomes difficult to carry.
Family and caregiver supportUse clear, age-appropriate explanations and invite questions over time. Do not promise a particular disease course. Keep familiar routines and one-to-one time where possible. Children are not responsible for managing an adult’s care or emotions. Agree a trusted adult at school or in the care team they can talk to.
Support for children and siblingsAsk a social worker or local adviser about respite, disability-related support, work adjustments and leave. Rules depend on the country and circumstances; a diagnosis alone does not establish entitlement. Use the official routes below before making decisions.
Ask your loved one how and when they want help. Preserving autonomy builds trust and preserves dignity as mobility needs change.
Taking breaks, maintaining your own routine, and setting boundaries isn't selfish — it ensures you remain a steady, healthy presence over time.
Be honest about physical changes without creating unnecessary fear. Simple, age-appropriate answers help children feel safe and included.
Offer to act as the note-taker during medical visits so your loved one can focus on the dialogue with the specialist. Agree beforehand on which questions are most important to ask.
Look into local caregiver resources, respite care options, and workplace flexibilities early on. Don't wait for a crisis to map out available support systems.
It is completely normal to feel grief, anxiety, or helplessness. Joining caregiver support networks or speaking with a counsellor gives you a safe space to express your own feelings.
Availability and eligibility vary by country and service. Ask the organisation what support applies to you.
Tell the emergency, surgical and anaesthesia teams about LGMD and your confirmed subtype. Bring your personal card and specialist contact details.
MDUK advises that this depolarising muscle relaxant is unsuitable in muscle-wasting conditions. Show the anaesthesia team the source guidance.
Sedatives, inhaled anaesthetics and neuromuscular blocking drugs may carry increased risk. Assessment and monitoring must be tailored to the subtype and the person.
Ask whether updated lung function (including forced vital capacity, FVC), ECG or echocardiography is needed. The team decides which assessments and postoperative breathing support are appropriate.
For an emergency, seek urgent medical help. This page and a personal card cannot replace assessment or provide anaesthetic clearance.
Agree a plan with a neuromuscular physiotherapist. Avoid heavy resistance and repeated loaded muscle-lengthening (eccentric) exercise. Gentle pool activity, submaximal aerobic activity and prescribed stretches may be suitable. Alternate activity with rest. Stop for pain or unusual breathlessness; reduce activity if weakness persists. Dark, cola-coloured urine after exercise needs urgent assessment.
Choose one priority, split tasks into smaller parts, plan rests and review how you feel the next day. Ask your therapist to adjust the plan when recovery or daily activities are affected.
A variant of uncertain significance is an inconclusive finding, not a confirmed diagnosis. Ask a genetic counsellor about reanalysis and whether testing selected relatives could help interpretation. Family testing can add evidence without guaranteeing clarification; it should not be treated as predictive testing based on a VUS alone.
What evidence is missing? Would segregation analysis help? When should this result be reviewed? Who will contact me if the classification changes?
Read the NHGRI VUS explanationInvitae’s Detect Muscular Dystrophy programme offers sponsored, no-charge testing for eligible people in the US through a healthcare professional. Eligibility and available panels must be checked with the provider; this is not a worldwide offer.
Check current programme eligibilityRegistries can support natural-history research, trial planning and contact with potentially eligible participants. Joining does not guarantee a trial place, treatment or a study in your country. Choose by confirmed gene and check the operator’s consent, eligibility and privacy terms.
International calpainopathy registry; check the operator’s enrolment requirements.
For genetically confirmed dysferlinopathy; apply through the Jain Foundation.
International registry for FKRP-related conditions; check the patient information before joining.
International registry for LGMD2D / R3; read its consent and privacy information.
Find the individual sarcoglycan registry and its eligibility rules in the directory.
A network of independent registries, not a single registry to join. Ask for a suitable national or regional contact.
AAV-based approaches aim to deliver genetic instructions to cells. Laboratory research, human trials and approved treatments are different stages. Use the live study finder below for current records; confirm availability and eligibility with the study team.
Browse current studies by geneMake a personal appointment sheet, an information card, or explore research by gene. Forms stay in this page and are not saved or sent to a server.
Choose your questions and add your own notes.
Complete from your confirmed diagnosis and care plan. Have your specialist review the details. This is a personal summary, not an official medical alert card.
Copy confirmed measurements from your report, including units and test date. FVC means forced vital capacity; LVEF means left ventricular ejection fraction. Leave unknown values blank. These fields do not interpret results or confirm fitness for anaesthesia.
The printed panels are wallet-width. Long entries may make the card taller; no information is cut off.
Source: MDUK anaesthesia guidance
Official MDUK LGMD alert card (PDF)
Browse public ClinicalTrials.gov records. Matching words do not establish that a study is suitable for you. Confirm eligibility and recruitment with the study team.
No data loaded yet. Choose a gene and load studies.
Titles appear in the language supplied by the registry, usually English. Study status is a registry entry, not a promise of access or benefit.
Preclinical work tests ideas in laboratories or models; it is not a treatment shown to work in people. Phases 1–3 investigate safety, dosing and effectiveness in human participants. Observational studies follow people without assigning an experimental treatment.
Search preclinical publications on PubMedFind gene-specific registries in the LGMD Awareness Foundation directory. Registration is with the external organisation, subject to its eligibility and privacy rules.
Open the registry directorySome records have no phase. The list covers clinical records, not all research.
Start with established organisations and original study information.
Understand LGMD, diagnosis and care through MDA's disease information.
Visit MDAPATIENT & FAMILY GUIDANCEExplore subtype names, daily living and support for muscle-wasting conditions.
Visit Muscular Dystrophy UKRESEARCH REGISTRYRead study records, eligibility criteria and recruitment information.
Explore study records