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Native American myopathy
ICD-10 Codes
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Description
Native American Myopathy (NAM) Description
Native American myopathy, also known as STAC3 disorder, is a rare autosomal recessive congenital myopathy that primarily affects skeletal muscles.
- Muscle Weakness and Poor Muscle Tone: People with NAM have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at birth [1][3].
- Myopathic Facies: The condition is characterized by a specific facial appearance, known as myopathic facies [5].
- Other Features: Other features of NAM include susceptibility to malignant hyperthermia, kyphoscoliosis (a type of spinal curvature), and cleft palate [5].
Key Points
- Autosomal recessive inheritance pattern
- Primarily affects skeletal muscles
- Muscle weakness and poor muscle tone begin at birth
- Myopathic facies and other specific features are characteristic of the condition
References:
[1] Apr 1, 2020 — People with STAC3 disorder have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at birth. [3] Apr 1, 2020 — People with STAC3 disorder have muscle weakness (myopathy) and poor muscle tone ( hypotonia) throughout the body that typically begins at birth. [5] NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in ...
Additional Characteristics
- Cleft palate
- Kyphoscoliosis (a type of spinal curvature)
- Myopathic facies
- Muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at birth
- Susceptibility to malignant hyperthermia
Signs and Symptoms
Native American myopathy, also known as STAC3 disorder, is a neuromuscular condition that primarily affects skeletal muscles. The signs and symptoms of this condition can vary in severity and may include:
- Muscle weakness: People with Native American myopathy typically experience muscle weakness throughout the body, which can be present at birth or develop later in life [4].
- Poor muscle tone: Affected individuals often have poor muscle tone (hypotonia) that can lead to feeding difficulties and delayed motor milestones
Additional Symptoms
- Poor muscle tone
- muscle weakness
Diagnostic Tests
Native American myopathy (NAM) is a neuromuscular disorder that can be challenging to diagnose, but various diagnostic tests can help confirm the condition.
Genetic Testing Genetic testing is a crucial step in diagnosing NAM. Once the STAC3 pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible [2]. This allows for early detection and management of the condition.
Physical Examination and Medical History A thorough physical examination and medical history can also aid in diagnosis. A healthcare provider will look for symptoms such as weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, and ptosis [4].
Imaging Studies Imaging studies like MRI scans, CT scans, X-rays, and ultrasounds can help identify muscle weakness and other related abnormalities. These tests are often used in conjunction with genetic testing to confirm the diagnosis.
Muscle Biopsy A muscle biopsy may also be performed to examine muscle tissue for signs of damage or abnormality. This test is typically recommended for patients with distal myopathy or a clinical suspicion of muscular dystrophy [9].
It's essential to note that a comprehensive diagnostic approach, including genetic testing, physical examination, and imaging studies, can help confirm the diagnosis of Native American myopathy.
References: [1] Not applicable [2] Jun 20, 2019 [3] Not applicable [4] Apr 1, 2020 — People with STAC3 disorder have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at birth. [5] Not applicable [6] Oct 15, 2019 — How is Native American myopathy diagnosed? One's medical history, family history, symptoms, physical exam, and lab tests will all be looked ... [7] Not applicable [8] by F Essop · 2024 — STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and susceptibility to ... [9] Is ideal for patients with distal myopathy or a clinical suspicion of muscular dystrophy. Also includes mitochondrial genome analysis. [10-15] Not applicable
Additional Diagnostic Tests
- Imaging Studies
- Genetic Testing
- Physical Examination and Medical History
- Muscle Biopsy
Treatment
Native American myopathy (NAM) is a rare neuromuscular disorder that primarily affects skeletal muscles, leading to muscle weakness and other symptoms [2]. While there is limited information available on the treatment of NAM, it appears that the condition is often associated with statin use in Native Americans [9].
The first reported case of NAM was identified at the same medical center where a cluster of cases of statin-associated autoimmune myopathy (SAIM) were also found among American Indians [9]. This suggests that there may be a link between statin use and the development of NAM.
However, it's essential to note that the treatment for NAM is not well established, and more research is needed to understand its pathophysiology and develop effective treatments [3].
In general, the management of neuromuscular disorders like NAM involves a multidisciplinary approach, including physical therapy, occupational therapy, and medications to manage symptoms [4]. However, specific treatment recommendations for NAM are not available.
It's also worth noting that statin-associated autoimmune myopathy (SAIM) is a condition characterized by muscle weakness and inflammation, which can be triggered by statin use in some individuals [1]. The treatment of SAIM typically involves discontinuing statin therapy and managing symptoms with medications such as corticosteroids and immunosuppressive agents.
In summary, while there is limited information available on the treatment of Native American myopathy (NAM), it appears that the condition may be associated with statin use in Native Americans. However, more research is needed to understand its pathophysiology and develop effective treatments.
References: [1] Mar 25, 2022 — Treatment with statins might lead to an increase in statin-associated autoimmune diseases, notably myositis or other related myopathies, ... [2] Apr 1, 2020 — STAC3 disorder (formerly known as Native American myopathy) is a condition that primarily affects skeletal muscles, which are muscles that the body uses for ... [3] Jun 20, 2019 — STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, ... [4] Oct 15, 2019 — Native American myopathy (NAM) is a neuromuscular disorder that has been reported exclusively to Native Americans. The first reported case ...
Recommended Medications
- immunosuppressive agents
- corticosteroids
- statins
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Native American myopathy (NAM) is a rare, autosomal recessive condition that presents with various clinical features, including congenital myopathy, musculoskeletal and palatal anomalies, susceptibility to malignant hyperthermia, and other systemic manifestations. When considering the differential diagnosis of NAM, several conditions should be taken into account.
Congenital Muscular Dystrophies: These are a group of disorders characterized by muscle weakness and wasting, often associated with progressive muscle degeneration. They can present with similar clinical features to NAM, such as congenital myopathy, musculoskeletal involvement, and feeding difficulties [6].
Congenital Myotonic Dystrophy Type 1: This is an autosomal dominant condition that presents with congenital myopathy, muscle stiffness, and other systemic manifestations. It can be considered in the differential diagnosis of NAM due to overlapping clinical features, such as cleft palate, ptosis, and short stature [6].
King-Denborough Syndrome: This is a rare, autosomal dominant disorder characterized by facial and skeletal abnormalities, congenital myopathy, and susceptibility to malignant hyperthermia. It can be considered in the differential diagnosis of NAM due to shared clinical features, such as congenital weakness, arthrogryposis, and susceptibility to malignant hyperthermia [11].
Central Core Disease: This is a rare, autosomal dominant disorder characterized by muscle weakness, stiffness, and susceptibility to malignant hyperthermia. It can be considered in the differential diagnosis of NAM due to shared clinical features, such as congenital myopathy, musculoskeletal involvement, and susceptibility to malignant hyperthermia [11].
Other Conditions: Other conditions that may be considered in the differential diagnosis of NAM include other forms of muscular dystrophy, myotonic syndromes, and neuromuscular disorders. A comprehensive evaluation of clinical features, genetic testing, and muscle biopsy can help differentiate these conditions from NAM.
In summary, when considering the differential diagnosis of Native American myopathy (NAM), several conditions should be taken into account, including congenital muscular dystrophies, congenital myotonic dystrophy type 1, King-Denborough syndrome, central core disease, and other neuromuscular disorders. A comprehensive evaluation of clinical features, genetic testing, and muscle biopsy can help differentiate these conditions from NAM.
References: [6] - [12] are references to the context provided.
Additional Differential Diagnoses
- Congenital Muscular Dystrophies
- Central Core Disease
- Other neuromuscular disorders
- myotonic dystrophy type 2
- N syndrome
Additional Information
- relatedICD
- http://example.org/icd10/M61.29
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- congenital myopathy 13
- IAO_0000115
- A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.
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- IDO_0000664
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