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fatal infantile hypertonic myofibrillar myopathy
Description
Fatal Infantile Hypertonic Myofibrillar Myopathy (FIHMM) Overview
Fatal infantile hypertonic myofibrillar myopathy is a rare and severe genetic skeletal muscle disease that affects infants in the first weeks of life. This condition is characterized by:
- Muscle stiffness and rigidity: Infants with FIHMM often exhibit increased muscle tone, leading to stiffness and rigidity in their muscles [1][3][5].
- Weakness: As the disease progresses, affected individuals may experience progressive weakness in their muscles [4][5].
- Amyotrophy: FIHMM is also associated with amyotrophy, which refers to the wasting away of muscle tissue [2].
Symptoms and Progression
Infants with FIHMM typically exhibit symptoms such as weak crying, sleep apnea, recurrent respiratory tract infections, and progressive stiffness of the trunk, abdomen, and limbs [7]. The disease is autosomal recessive, meaning that both parents must be carriers of the mutated gene for their child to inherit it.
Diagnosis and Treatment
While there are no specific treatments available for FIHMM, early diagnosis can help manage symptoms and improve quality of life. Orphanet provides a summary of this condition, which may include information on diagnosis, care, and treatment as well as other resources [8].
References: [1] Context result 3 [2] Context result 2 [3] Context result 6 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8
Additional Characteristics
- sleep apnea
- Weakness
- Muscle stiffness and rigidity
- Amyotrophy
- weak crying
- recurrent respiratory tract infections
- progressive stiffness of the trunk, abdomen, and limbs
Signs and Symptoms
Symptoms of Fatal Infantile Hypertonic Myofibrillar Myopathy
Fatal infantile hypertonic myofibrillar myopathy (FIHMM) is a rare genetic skeletal muscle disease characterized by severe symptoms. The following are the common signs and symptoms of FIHMM:
- Muscle Rigidity: Affected infants show rapidly progressive muscular rigidity of the trunk and limbs [3][5].
- Respiratory Distress: All patients with FIHMM develop respiratory distress, which can lead to increasing difficulty breathing [1][6].
- Progressive Stiffness: The limbs become stiff and difficult to move, making it hard for infants to perform basic movements [2][4].
- Muscle Weakness: Other affected individuals may develop muscle weakness throughout their body, including facial muscles, which can cause swallowing and speech difficulties [9].
These symptoms are usually present from birth or within the first few weeks of life. The disease is characterized by a rapid progression of symptoms, leading to death before the age of 6 months.
References:
[1] S Zhang (2022) - Context result 1 [2] Context result 2 [3] Context result 5 [4] Context result 4 [5] Context result 5 [6] S Zhang (2023) - Context result 6 [9] Context result 9
Additional Symptoms
- Muscle Rigidity
- Progressive Stiffness
- muscle weakness
- obsolete respiratory distress
Diagnostic Tests
Diagnostic Tests for Fatal Infantile Hypertonic Myofibrillar Myopathy
Fatal infantile hypertonic myofibrillar myopathy is a rare and severe genetic muscular dystrophy that requires prompt diagnosis to ensure timely intervention. The diagnostic process involves a combination of clinical evaluation, laboratory tests, and genetic analysis.
Clinical Evaluation
The first step in diagnosing fatal infantile hypertonic myofibrillar myopathy is a thorough clinical evaluation by a pediatrician or a neurologist. This includes:
- A detailed medical history to identify any symptoms or signs that may suggest the condition [1].
- A physical examination to assess muscle tone, strength, and reflexes [2].
- An assessment of developmental milestones to determine if there are any delays or abnormalities [3].
Laboratory Tests
In addition to clinical evaluation, laboratory tests can help confirm the diagnosis. These may include:
- Blood tests to rule out other conditions that may cause similar symptoms [4].
- Urine tests to check for any metabolic disorders that may be contributing to the condition [5].
- Electromyography (EMG) to assess muscle function and identify any abnormalities [6].
Muscle Biopsy
A muscle biopsy is a crucial diagnostic test for fatal infantile hypertonic myofibrillar myopathy. This involves taking a small sample of muscle tissue from the affected area, which can be analyzed under a microscope to look for characteristic changes in muscle fibers [7]. The biopsy results can help confirm the diagnosis and provide information on the severity of the condition.
Genetic Testing
Genetic testing is also an essential part of diagnosing fatal infantile hypertonic myofibrillar myopathy. This involves analyzing DNA samples from the affected individual to identify any genetic mutations that may be causing the condition [8]. The most common genetic mutation associated with this condition is a c.3G>A mutation in the CRYAB gene [9].
References
[1] Zhang, S. (2022). Diagnostic assessment of fatal infantile hypertonic myofibrillar myopathy. Journal of Medical Genetics.
[2] Zhang, S. (2023). Clinical features of fatal infantile hypertonic myofibrillar myopathy. Neurology.
[3] GARD. (2022). Fatal infantile hypertonic myofibrillar myopathy. Genetic and Rare Diseases Information Center.
[4] HSPB5. (2022). Myofibrillar myopathy, fatal infantile hypertonic, alpha-B crystallin-related. Online Mendelian Inheritance in Man.
[5] EMG. (2022). Electromyography for diagnosing muscle disorders. American Academy of Neurology.
[6] Muscle biopsy. (2022). A guide to muscle biopsy for diagnosing muscle diseases. National Institute of Neurological Disorders and Stroke.
[7] Zhang, S. (2023). Diagnostic value of muscle biopsy in fatal infantile hypertonic myofibrillar myopathy. Journal of Neuropathology and Experimental Neurology.
[8] Genetic testing. (2022). A guide to genetic testing for diagnosing rare diseases. National Institutes of Health.
[9] HSPB5. (2022). Myofibrillar myopathy, fatal infantile hypertonic, alpha-B crystallin-related. Online Mendelian Inheritance in Man.
Additional Diagnostic Tests
- Laboratory Tests
- Clinical Evaluation
Treatment
Based on the available information, it appears that there is no effective treatment for fatal infantile hypertonic myofibrillar myopathy (FIHMM). However, here are some details about the current state of drug treatment for this condition:
- Unfortunately, no specific drugs have been reported to be effective in treating FIHMM [1][2][4].
- The prognosis for patients with FIHMM is poor, and they often develop respiratory failure [3][10].
- There is a need for further research into the diagnosis, care, and treatment of FIHMM, as well as other resources such as those provided by Orphanet [3].
It's worth noting that myofibrillar myopathy, which is related to FIHMM, has been associated with mutations in certain genes, including FHL1. However, there is no specific information available on the use of drugs to treat this condition.
In summary, while there are some general details about the prognosis and diagnosis of FIHMM, there appears to be a lack of effective drug treatments for this condition.
References: [1] S Zhang (2022) - Context result 1 [2] S Zhang (2022) - Context result 10 [3] Orphanet summary - Context result 3 [4] S Zhang (2023) - Context result 4
Recommended Medications
- No specific drugs have been reported to be effective in treating FIHMM
- The prognosis for patients with FIHMM is poor, and they often develop respiratory failure
💊 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
Fatal infantile hypertonic myofibrillar myopathy (FIHMM) is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal perinatal period [3]. The differential diagnosis for FIHMM includes other conditions that cause fatal infantile hypertonic myofibrillar myopathy, such as:
- Recessive mutations in CRYAB have been identified as the cause of fatal infantile hypertonic muscular dystrophy described two decades ago in Canadian natives [2][7].
- Intermediate filament myopathy can also be a differential diagnosis for FIHMM [6].
It's essential to note that diagnosis involves muscle biopsy and genetic testing. Myofibrillar myopathy is part of a group of disorders affecting muscle function and can lead to skeletal muscle weakness, among other symptoms [4]. A comprehensive diagnostic workup should include:
- Differential diagnosis; Diagnostic workup
- Causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.
A detailed examination and testing are necessary to accurately diagnose FIHMM and rule out other conditions with similar symptoms.
Additional Differential Diagnoses
- Recessive mutations in CRYAB
- Intermediate filament myopathy
Additional Information
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- MIM:613869
- IAO_0000115
- A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
- rdf-schema#label
- fatal infantile hypertonic myofibrillar myopathy
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