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Disease Profile
Autosomal recessive axonal neuropathy with neuromyotonia
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
G60.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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)
Gamstorp-Wohlfart Syndrome; Myokymia, Myotonia, And Muscle Wasting; ARAN-NM;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 324442
Definition
A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
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 | ||
| 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 | ||
| Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
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 |
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 Supporting this Disease
-
Charcot-Marie-Tooth Association Australia Inc.
Building 22
Concord Hospital
Concord, NSW, 2139 Australia
Telephone: (02) 9767 5105
E-mail: [email protected]
Website: https://www.cmt.org.au -
CMT Research Foundation
4062 Peachtree Road
Suite A209
Atlanta, GA 30319
Telephone: (404) 806-7180
E-mail: [email protected]
Website: https://cmtrf.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
- Genetics Home Reference (GHR) contains information on Autosomal recessive axonal neuropathy with neuromyotonia. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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 Autosomal recessive axonal neuropathy with neuromyotonia. Click on the link to view a sample search on this topic.