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Gamstorp-Wohlfart syndrome
ICD-10 Codes
Related ICD-10:
Description
Gamstorp-Wohlfart syndrome, also known as Autosomal Recessive Axonal Neuropathy with Neuromyotonia (NMAN), is a rare hereditary disorder [2]. It is characterized by progressive weakness and atrophy of muscles in feet, legs, and hands [1], [4], [6]. In some patients, the syndrome also causes decreased sensitivity in these areas [4].
The symptoms of Gamstorp-Wohlfart syndrome typically begin in the first or second decade of life and progress slowly over time [3]. The disorder is caused by a genetic mutation that affects the peripheral nerves, leading to axonal degeneration and neuromyotonia (a condition characterized by muscle twitches and stiffness) [5], [7].
According to Gamstorp and Wohlfart's original description in 1959, the syndrome is marked by myokymia (fine muscle twitches), myotonia, muscle wasting, and hyperhidrosis (excessive sweating) in affected individuals [7]. More recent studies have confirmed these findings and added that the disorder is characterized by a slowly progressive axonal motor greater than sensory polyneuropathy combined with neuromyotonia [5], [8].
Overall, Gamstorp-Wohlfart syndrome is a rare and complex neurological disorder that requires careful diagnosis and management to alleviate its symptoms.
Additional Characteristics
- progressive weakness and atrophy of muscles in feet, legs, and hands
- decreased sensitivity in areas affected by the syndrome
- myokymia (fine muscle twitches)
- myotonia
- muscle wasting
- hyperhidrosis (excessive sweating)
Signs and Symptoms
Gamstorp-Wohlfart Syndrome: A Rare Neurological Disorder
Gamstorp-Wohlfart syndrome, also known as distal myopathy with myokymia, is a rare neurological disorder characterized by muscle weakness, stiffness, and fasciculations in the distal lower limbs. The symptoms of this condition can vary from person to person but often include:
- Distal lower limb weakness: Muscle weakness that affects the distal (far) parts of the legs, making it difficult
Additional Symptoms
- Distal lower limb weakness
- Stiffness
- Fasciculations in the distal lower limbs
Diagnostic Tests
Diagnostic Tests for Gamstorp-Wohlfart Syndrome
Gamstorp-Wohlfart syndrome, also known as autosomal recessive axonal neuropathy with neuromyotonia, is a rare hereditary disorder that affects the peripheral nerves. To confirm this diagnosis, several diagnostic tests can be performed.
- Clinical Tests: A thorough clinical examination is essential to identify the characteristic features of Gamstorp-Wohlfart syndrome, such as abnormality of limbs, abnormal foot morphology, and elevated circulating creatine kinase concentration [3].
- Blood Tests: Blood tests can help rule out other conditions that may present with similar symptoms. Once adrenal disorders and inherited kidney diseases are ruled out, further testing can confirm the diagnosis [8].
- DNA Analysis: Genetic testing is crucial to confirm the diagnosis of Gamstorp-Wohlfart syndrome. DNA analysis can identify the specific genetic mutations responsible for this condition [9].
- Immunological Tests: If there is a high suspicion of autoimmune disease, checking for LGI1 and Caspr2 antibodies may be recommended. High levels of these antibodies may be associated with autoimmune disease [10].
It's essential to note that a combination of clinical tests, blood tests, DNA analysis, and immunological tests can help confirm the diagnosis of Gamstorp-Wohlfart syndrome.
References: [3] - Abnormality of limbs. Abnormal foot morphology ยท Abnormality of metabolism/homeostasis. Elevated circulating creatine kinase concentration. [8] - Once they rule out these adrenal disorders and inherited kidney diseases, your doctor can confirm if it's Gamstorp disease through blood tests, DNA analysis, ... [9] - Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by ... [10] - If there is a high suspicion for the diagnosis, checking for LGI1 and Caspr2 antibodies is recommended. High levels may be associated with autoimmune disease, ...
Additional Diagnostic Tests
- Blood Tests
- Immunological Tests
- Clinical Tests
- DNA Analysis
Treatment
Gamstorp-Wohlfart syndrome, also known as Autosomal Recessive Axonal Neuropathy with Neuromyotonia, is a rare hereditary disorder that affects the peripheral nerves.
Treatment Options:
- Sodium channel-blocking drugs such as carbamazepine, phenytoin, and mexiletine may be used to treat neuromyotonia [5]. These medications can help alleviate symptoms by reducing muscle excitability.
- Phenytoin therapy has been shown to reverse hypertrophy caused by persistent muscle contraction [10].
- In some cases, symptomatic treatment with sodium channel-blocking drugs may be effective in managing the condition.
Important Note:
While these treatments may provide relief from symptoms, it's essential to note that Gamstorp-Wohlfart syndrome is a rare and complex disorder. Treatment plans should be tailored to individual needs and may require ongoing management by a healthcare professional.
References:
[5] S Treidler โ Neuromyotonia may respond to symptomatic treatment with sodium channel-blocking drugs (carbamazepine, phenytoin, mexiletine). [10] Hypertrophy may result from the persistent muscle contraction and can be reversed by phenytoin therapy, which reduces this activity (Zisfein et al. 1983).
Recommended Medications
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Differential Diagnosis
Gamstorp-Wohlfart syndrome, also known as autosomal recessive axonal neuropathy with neuromyotonia, is a rare hereditary disorder characterized by progressive weakness and atrophy of muscles in feet, legs, and hands [3][7]. The differential diagnosis for this condition involves considering other disorders that present similar symptoms.
Some conditions that may be considered in the differential diagnosis of Gamstorp-Wohlfart syndrome include:
- Charcot-Marie-Tooth disease: a group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and atrophy [9].
- Hereditary motor and sensory neuropathy (HMSN): a condition characterized by progressive degeneration of the peripheral nerves, resulting in muscle weakness and atrophy [9].
- Neuromyotonia: a rare disorder characterized by muscle stiffness and cramps due to abnormal electrical activity in the muscles [8].
The differential diagnosis for Gamstorp-Wohlfart syndrome also involves considering other conditions that may present with similar symptoms, such as:
- Muscle dystrophies: a group of inherited disorders that affect the muscles, leading to progressive weakness and atrophy [4].
- Myasthenia gravis: an autoimmune disorder characterized by muscle weakness and fatigue due to abnormal immune system activity [5].
A thorough medical history, physical examination, and diagnostic tests such as electromyography (EMG) and nerve conduction studies (NCS) are essential for differentiating Gamstorp-Wohlfart syndrome from other conditions. Genetic testing may also be necessary to confirm the diagnosis.
References:
[3] Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by ...
[7] Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by ...
[8] Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal recessive neuromyotonia and axonal neuropathy; myokymia, ...
[9] Axonal neuropathy, a characteristic feature of this condition, is caused by damage to a particular part of peripheral nerves called axons, ...
Additional Differential Diagnoses
- Hereditary motor and sensory neuropathy (HMSN)
- Neuromyotonia
- Muscle dystrophies
- Charcot-Marie-Tooth disease
- myasthenia gravis
Additional Information
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- A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
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