What's limb-girdle muscular dystrophy?
Limb-girdle muscular dystrophy type R1 (calpainopathy), the most common form, is characterized by progressive, symmetrical muscle weakness that primarily affects the shoulder and pelvic girdles, with onset ranging from childhood to adulthood.
| Features mapped | 6 |
|---|---|
| Treatments mapped | 1 |
| Published sources | 5 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Lower limb muscle weakness
Progressive weakness of the upper and lower limbs occurs in limb-girdle muscular dystrophy type R1, leading to difficulty walking and difficulty using the arms for overhead activities.
Flexion contracture
Muscle contractures develop in calpainopathy (LGMD type R1) and are a focus of supportive care such as physiotherapy and orthotics.
Elevated circulating creatine kinase activity
Elevated serum creatine kinase, a marker of muscle breakdown, is commonly found in limb-girdle muscular dystrophy alongside limb-girdle muscle weakness.
Gait disturbance
Difficulty walking develops in limb-girdle muscular dystrophy type R1 as limb weakness progresses.
Autosomal recessive inheritance
Calpainopathy, the most common form of limb-girdle muscular dystrophy, is inherited in an autosomal recessive pattern and caused by biallelic variants in the CAPN3 gene.
Proximal amyotrophy
Progressive weakness of the proximal muscles (those closest to the trunk) is a hallmark feature of limb-girdle muscular dystrophies.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
physiotherapy
Physiotherapy is a mainstay of supportive care in calpainopathy, including management of muscle contractures.
Used to help with: Flexion contracture.
“Calpainopathies have no cure and care is focused on physiotherapy, management of muscle contractures, moderate physical activity, and orthosis.”
How to read the evidence labels
Where this comes from
This guide is built from 5 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.