OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:352482
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement is an extremely rare inherited muscle disease that affects both the muscles around the shoulders and hips (called the limb-girdle muscles) and the cerebellum, which is the part of the brain that controls balance and coordination. This condition is now considered an obsolete classification in medical databases, meaning it may have been reclassified or merged with another recognized disease entity as scientific understanding has advanced. Patients with this condition typically experience progressive weakness in the muscles closest to the body's trunk — the upper arms, thighs, hips, and shoulders — making it increasingly difficult to walk, climb stairs, or lift objects. In addition to muscle weakness, affected individuals also develop cerebellar problems, which can cause unsteady walking (ataxia), difficulty with coordination, slurred speech, and problems with fine motor tasks. Because this is an obsolete classification, patients who were previously diagnosed under this label may now fall under a more specific limb-girdle muscular dystrophy subtype. Treatment is primarily supportive and may include physical therapy, occupational therapy, assistive devices for mobility, and management of cerebellar symptoms. There is currently no cure for this group of conditions, though research into gene therapies and other disease-modifying treatments is ongoing.

Also known as:

Key symptoms:

Weakness in the shoulders and upper armsWeakness in the hips and thighsDifficulty walking or climbing stairsUnsteady or wobbly walking (ataxia)Poor coordination and balanceSlurred or slow speechDifficulty with fine motor tasks like writing or buttoning clothesProgressive loss of muscle bulk (muscle wasting)Fatigue during physical activityDifficulty rising from a seated or lying positionTremor or shaking movementsEye movement abnormalities

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement.

View clinical trials →

No actively recruiting trials found for OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement community →

No specialists are currently listed for OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement.

Search all travel grants →NORD Financial Assistance ↗

Community

Open OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvementForum →

No community posts yet. Be the first to share your experience with OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement.

Start the conversation →

Latest news about OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

No recent news articles for OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Has my condition been reclassified under a more specific limb-girdle muscular dystrophy subtype?,What genetic testing should I have to identify the exact cause of my condition?,How quickly is the disease likely to progress in my case?,Should I be monitored for heart or breathing problems?,What physical therapy or rehabilitation programs would be most helpful?,Are there any clinical trials or emerging therapies I might be eligible for?,What resources or support groups are available for people with limb-girdle muscular dystrophy?

Common questions about OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

What is OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement?

Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement is an extremely rare inherited muscle disease that affects both the muscles around the shoulders and hips (called the limb-girdle muscles) and the cerebellum, which is the part of the brain that controls balance and coordination. This condition is now considered an obsolete classification in medical databases, meaning it may have been reclassified or merged with another recognized disease entity as scientific understanding has advanced. Patients with this condition typically experience progressive weakness in the m

How is OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement inherited?

OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.