The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Elevated serum creatine phosphokinase | Very frequent (present in 80%-99% of cases) |
| EMG abnormality | Very frequent (present in 80%-99% of cases) |
| Increased variability in muscle fiber diameter | Very frequent (present in 80%-99% of cases) |
| Mask-like facies | Very frequent (present in 80%-99% of cases) |
| Myopathy | Very frequent (present in 80%-99% of cases) |
| Proximal muscle weakness in lower limbs | Very frequent (present in 80%-99% of cases) |
| Waddling gait | Very frequent (present in 80%-99% of cases) |
| Tall stature | Frequent (present in 30%-79% of cases) |
| Areflexia | - |
| - | |
| Calf muscle pseudohypertrophy | - |
| Centrally nucleated skeletal muscle fibers | - |
| EMG: myopathic abnormalities | - |
| Exercise-induced myalgia | - |
| Facial palsy | - |
| Gowers sign | - |
| Hyporeflexia | - |
| Muscular dystrophy | - |
| Neck flexor weakness | - |
| - | |
| Pelvic girdle muscle weakness | - |
| Phenotypic variability | - |
| Quadriceps muscle weakness | - |
| Shoulder girdle muscle atrophy | - |
| Shoulder girdle muscle weakness | - |
| Slow progression | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
Publication Highlights Release of Muscular Dystrophy Action Plan
April 8, 2016
New Directions in Biology and Disease of Skeletal Muscle
Sunday, June 29, 2014 -
Wednesday, July 2, 2014
Location:
Chicago,
IL
Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.
Contact: Dr. John D. Porter, 301-496-5739,porterjo@ninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
The following diseases are related to Limb-girdle muscular dystrophy type 2H. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
