Limb-girdle muscular dystrophy type 1A

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Elderly

ICD-10

G71.0

Inheritance

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

LGMD1A; Muscular dystrophy, proximal, type 1A; LGMD1

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 266

Definition

A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Proximal muscle weakness	Weakness in muscles of upper arms and upper legs	0003701
Shoulder girdle muscle weakness	Weak shoulder muscles	0003547
30%-79% of people have these symptoms
Autophagic vacuoles		0003736
Difficulty climbing stairs	Difficulty walking up stairs	0003551
Difficulty standing	Difficulty in standing	0003698
Distal muscle weakness	Weakness of outermost muscles	0002460
Elevated serum creatine kinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
EMG: myopathic abnormalities		0003458
Fatty replacement of skeletal muscle		0012548
Foot dorsiflexor weakness	Foot drop	0009027
Hip flexor weakness		0012515
Inability to walk		0002540
Increased endomysial connective tissue		0100297
Increased variability in muscle fiber diameter		0003557
Limited elbow flexion		0006376
Limited knee flexion/extension		0005085
5%-29% of people have these symptoms
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Facial hypotonia	Decreased facial muscle tone Low facial muscle tone Reduced facial muscle tone [ more ]	0000297
Reduced maximal inspiratory pressure		0012496
Reduced vital capacity		0002792
Respiratory failure		0002878
Percent of people who have these symptoms is not available through HPO
Achilles tendon contracture	Shortening of the achilles tendon Tight achilles tendon [ more ]	0001771
Adult onset	Symptoms begin in adulthood	0003581
Areflexia	Absent tendon reflexes	0001284
Autosomal dominant inheritance		0000006
Cardiomyopathy	Disease of the heart muscle	0001638
Distal amyotrophy	Distal muscle wasting	0003693
Hyporeflexia of lower limbs		0002600
Muscle fiber cytoplasmatic inclusion bodies		0100303
Muscle stiffness		0003552
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Myofibrillar myopathy		0003715
Polyneuropathy	Peripheral nerve disease	0001271
Progressive distal muscle weakness		0009063
Slow progression	Signs and symptoms worsen slowly with time	0003677

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Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy type 1A. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Limb-girdle muscular dystrophy type 1A. Click on the link to view a sample search on this topic.

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