Orpha Number: 324442
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 | ||
| Distal lower limb muscle weakness | 0009053 | |
| EMG: chronic denervation signs | 0003444 | |
| EMG: myokymic discharges | 0100288 | |
| 30%-79% of people have these symptoms | ||
| Absent Achilles reflex |
Absent ankle reflexes
|
0003438 |
| 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 |
| Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ]
|
0003546 |
| Fatigable weakness of distal limb muscles | 0030198 | |
| Frequent falls | 0002359 | |
| Handgrip myotonia | 0012899 | |
| Limb fasciculations | 0007289 | |
| Motor axonal neuropathy | 0007002 | |
| Motor polyneuropathy | 0007178 | |
| 5%-29% of people have these symptoms | ||
| Achilles tendon |
Shortening of the achilles tendon
Tight achilles tendon
[ more ]
|
0001771 |
| Distal lower limb amyotrophy | 0008944 | |
| Distal sensory impairment of all modalities | 0003409 | |
| Exercise-induced leg cramps | 0008991 | |
| Foot dorsiflexor weakness |
Foot drop
|
0009027 |
| Impaired vibration sensation in the lower limbs |
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
[ more ]
|
0002166 |
| Intrinsic hand muscle atrophy | 0008954 | |
| Muscle stiffness | 0003552 | |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
| Percussion-induced rapid rolling muscle contractions | 0003760 | |
| Peroneal muscle atrophy | 0009049 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Progressive inability to walk | 0002505 | |
| Sensory axonal neuropathy | 0003390 | |
| Steppage gait |
High stepping
|
0003376 |
| Tetraparesis | 0002273 | |
| Weakness of long finger extensor muscles | 0009077 | |
| Weakness of the intrinsic hand muscles | 0009005 | |
| Writer's cramp | 0002356 | |
| 1%-4% of people have these symptoms | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
|
0000975 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Short third metatarsal |
Short 3rd long bone of foot
|
0004686 |
| Specific learning disability | 0001328 | |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
| Thoracic |
0002943 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the foot |
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ]
|
0001760 |
| 0000007 | ||
| Distal sensory impairment |
Decreased sensation in extremities
|
0002936 |
| Fasciculations |
Muscle twitch
|
0002380 |
| Muscle spasm | 0003394 | |
| Myokymia | 0002411 | |
| Myotonia | 0002486 | |
| Progressive |
Worsens with time
|
0003676 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
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.
