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PubMed This is a summary of 15 peer-reviewed journal articles Updated
Neurology

Understanding Your Diagnosis: The Basics of LGMD

At a Glance

Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic disorders causing muscle weakness around the hips and shoulders. Subtypes are classified as "D" (dominant) or "R" (recessive) based on inheritance. Knowing your specific genetic subtype helps guide your care and clinical trial options.

Limb-Girdle Muscular Dystrophy (LGMD) is not a single disease. Instead, it is a broad umbrella term for a group of rare genetic disorders that cause progressive weakness and wasting (atrophy) of the muscles [1][2]. These disorders primarily affect the “limb-girdle” muscles—the muscles surrounding the hips and shoulders [1][3]. Importantly, LGMD typically affects only the muscles and does not impact cognitive function or intelligence.

Receiving an LGMD diagnosis can be an emotionally heavy experience. Many families endure a long “diagnostic odyssey” of testing and uncertainty before getting an answer [4]. It is common for patients and caregivers to experience lower quality of life and symptoms of depression as they navigate these changes [5][6]. Understanding the basics of how LGMD is named and inherited is often the first step toward feeling more in control of your care.

Decoding the Name Change

In 2018, the way LGMD is classified was completely updated by the European Neuromuscular Centre (ENMC) to make it more consistent and useful for research and clinical trials [7]. You may see “old” names in older medical records and “new” names in more recent reports.

The New Formula: D/R + Number

The new system uses a simple letter and number code:

  • The Letter (Inheritance): D stands for Dominant, and R stands for Recessive [7].
  • The Number (Discovery Order): The number tells you the order in which that specific genetic type was discovered [7].
  • The Gene: The name now often includes the specific gene involved (e.g., LGMDR1 is also called CAPN3-related LGMD).
Old Name New Name Associated Gene
LGMD1D LGMDD1 DNAJB6
LGMD1F LGMDD2 TNPO3
LGMD1G LGMDD3 HNRNPDL
LGMD2A LGMDR1 CAPN3
LGMD2B LGMDR2 DYSF
LGMD2D LGMDR3 SGCA
LGMD2E LGMDR4 SGCB
LGMD2C LGMDR5 SGCG
LGMD2F LGMDR6 SGCD
LGMD2G LGMDR7 TCAP
LGMD2I LGMDR9 FKRP
LGMD2L LGMDR12 ANO5

Note: Some older types (like LGMD1A, LGMD1B, and LGMD1C) were moved into other categories because they did not meet the strict new definition of LGMD [7].

Understanding Inheritance

Your LGMD subtype is determined by how the “faulty” gene was passed down.

Autosomal Dominant (The “D” Types)

In dominant LGMD, you only need to inherit one copy of the mutated gene from one parent to have the condition [8].

  • Risk to children: A person with a dominant form of LGMD has a 50% chance of passing the condition to each of their children [8].

Autosomal Recessive (The “R” Types)

In recessive LGMD, you must inherit two copies of the mutated gene—one from each parent [9]. Usually, the parents are “carriers” who have no symptoms themselves.

  • Risk to siblings: If both parents are carriers, there is a 25% chance for each of their children to have the condition [9].

Prevalence and Subtypes

LGMD is rare, but some types are more common than others. The most frequent recessive types worldwide include LGMDR1 (CAPN3-related) and LGMDR2 (DYSF-related) [10][11]. The exact prevalence of each type can vary depending on where you live in the world due to “founder mutations” (genetic changes that become more common in specific populations) [12][13].

Today, doctors use Next-Generation Sequencing (NGS)—a type of advanced genetic testing—to pinpoint exactly which gene is causing the muscle weakness [14][15]. Knowing your specific “D” or “R” subtype is essential for understanding your prognosis and qualifying for new clinical trials.

Common questions in this guide

What do the 'D' and 'R' mean in my LGMD diagnosis?
In the updated naming system, the 'D' stands for dominant inheritance, and the 'R' stands for recessive inheritance. This tells you how the genetic mutation causing the condition was passed down in your family.
How is recessive LGMD inherited?
Recessive LGMD occurs when a person inherits two copies of the mutated gene, one from each parent. The parents are usually carriers who do not show any symptoms of muscle weakness themselves.
Does Limb-Girdle Muscular Dystrophy affect the brain or intelligence?
No, LGMD typically only affects the muscles, particularly the muscles around the hips and shoulders. It does not impact a person's cognitive function or intelligence.
Why did the names of LGMD subtypes change?
The classification system was updated in 2018 to make the names more consistent for research and clinical trials. The new names use a formula that includes whether the condition is dominant or recessive, the order of discovery, and the affected gene.
How do doctors determine my exact LGMD subtype?
Doctors use advanced genetic testing called Next-Generation Sequencing (NGS) to pinpoint the exact gene causing your muscle weakness. Knowing your exact subtype helps doctors understand your prognosis and determine if you qualify for clinical trials.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on my genetic report, what is my specific subtype under the new 2018 nomenclature (the 'D' or 'R' name)?
  2. 2.Which gene is specifically affected in my case, and does it follow a dominant or recessive inheritance pattern?
  3. 3.How does my specific subtype typically progress compared to other forms of LGMD?
  4. 4.Are there specific symptoms, like heart or breathing issues, that are common for my particular subtype?
  5. 5.Does our hospital or clinic have a mental health professional or counselor who specializes in working with families dealing with chronic neuromuscular conditions?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (15)
  1. 1

    Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

    Mohan S, McNulty S, Thaxton C, et al.

    Annals of clinical and translational neurology 2024; (11(9)):2268-2276 doi:10.1002/acn3.52127.

    PMID: 39215466
  2. 2

    Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most.

    Hunter M, Heatwole C, Wicklund M, et al.

    Muscle & nerve 2019; (60(4)):419-424 doi:10.1002/mus.26636.

    PMID: 31298728
  3. 3

    Dystrophinopathies and Limb-Girdle Muscular Dystrophies.

    Domingos J, Sarkozy A, Scoto M, Muntoni F

    Neuropediatrics 2017; (48(4)):262-272 doi:10.1055/s-0037-1601860.

    PMID: 28427100
  4. 4

    From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb-Girdle Muscular Dystrophy Diagnosis.

    Osman H, Adamji Z, Pfeffer G, et al.

    Health expectations : an international journal of public participation in health care and health policy 2025; (28(3)):e70271 doi:10.1111/hex.70271.

    PMID: 40323721
  5. 5

    Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy.

    O'Dowd DN, Bostock EL, Smith D, et al.

    Neuromuscular disorders : NMD 2021; (31(4)):328-335 doi:10.1016/j.nmd.2021.01.007.

    PMID: 33593658
  6. 6

    Quality of life in adult patients with limb-girdle muscular dystrophies.

    Peric M, Peric S, Stevanovic J, et al.

    Acta neurologica Belgica 2018; (118(2)):243-250 doi:10.1007/s13760-017-0857-9.

    PMID: 29116571
  7. 7

    229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

    Straub V, Murphy A, Udd B,

    Neuromuscular disorders : NMD 2018; (28(8)):702-710 doi:10.1016/j.nmd.2018.05.007.

    PMID: 30055862
  8. 8

    Central core myopathy with autophagy.

    Cotta A, Paim JF, Pavanello RCM, et al.

    Muscle & nerve 2017; (56(2)):E8-E9 doi:10.1002/mus.25594.

    PMID: 28164363
  9. 9

    LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.

    Al-Harbi KM, Abdallah AM

    Neuro endocrinology letters 2016; (37(4)):277-281.

    PMID: 27857043
  10. 10

    Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.

    Alharbi N, Matar R, Cupler E, et al.

    Frontiers in neuroscience 2022; (16()):815556 doi:10.3389/fnins.2022.815556.

    PMID: 35273475
  11. 11

    [Sarcoglycanopathies: state of the art and therapeutic perspectives].

    Fernández-Eulate G, Leturcq F, Laforêt P, et al.

    Medecine sciences : M/S 2020; (36 Hors série n° 2()):22-27 doi:10.1051/medsci/2020243.

    PMID: 33427632
  12. 12

    Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.

    Khadilkar SV, Chaudhari CR, Dastur RS, et al.

    Annals of Indian Academy of Neurology 2016; (19(1)):108-11 doi:10.4103/0972-2327.175435.

    PMID: 27011640
  13. 13

    Dominant LGMD2A: alternative diagnosis or hidden digenism?

    Sáenz A, López de Munain A

    Brain : a journal of neurology 2017; (140(2)):e7 doi:10.1093/brain/aww281.

    PMID: 27818383
  14. 14

    Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.

    Ganaraja VH, Polavarapu K, Bardhan M, et al.

    Global medical genetics 2022; (9(1)):34-41 doi:10.1055/s-0041-1736567.

    PMID: 35169782
  15. 15

    A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

    Spadafora P, Qualtieri A, Cavalcanti F, et al.

    International journal of molecular sciences 2022; (23(16)) doi:10.3390/ijms23168932.

    PMID: 36012197

This page explains LGMD diagnosis, inheritance patterns, and naming systems for educational purposes. Always consult your neurologist or genetic counselor for information about your specific genetic subtype.

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