obsolete congenital musculoskeletal abnormality

Obsolete Congenital Musculoskeletal Abnormality

The term "obsolete congenital musculoskeletal abnormality" refers to a condition that was once considered a congenital anomaly, but is no longer recognized as such in modern medical terminology.

• According to search result [3], this term is an outdated synonym for "congenital malformation and deformation of the musculoskeletal system".
• Search result [5] also lists it as a redundant term, with "congenital malformation and deformation of the musculoskeletal system" being the preferred description.
• Furthermore, search result [9] designates this term as an obsolete synonym for "congenital musculoskeletal abnormality".

It's worth noting that modern medical terminology has evolved to use more precise and descriptive terms to classify congenital anomalies. As a result, this term is no longer used in contemporary medical practice.

References:

• [3] Congenital malformation and deformation of the musculoskeletal system (disorder)
• [5] Congenital malformation and deformation of the musculoskeletal system
• [9] Congenital musculoskeletal abnormality, NOS

Based on the provided context, it appears that there are various diagnostic tests used to identify congenital musculoskeletal abnormalities. Here's a summary of some of these tests:

• Radiography: This is often the first line of diagnosis for congenital musculoskeletal anomalies. Radiographs can help determine which bones are involved and provide valuable information for further testing (See [11] and [14]).
• Chromosomal microarray: This test is recommended as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including those with musculoskeletal abnormalities (See [9]).
• Specific gene tests or broader gene panel tests: These may be considered in the evaluation of patients with congenital musculoskeletal anomalies, especially if there are suspicions of a genetic syndrome (See [10] and [13]).
• Electromyography (EMG): This test can help diagnose muscle abnormalities by measuring the electrical activity of muscles (See [7]).
• Nerve conduction studies (NCS): These tests can also be used to diagnose nerve-related musculoskeletal abnormalities (See [7]).
• Serum creatine kinase (CK) levels: Elevated CK levels may indicate muscle damage or disease (See [7]).
• Urine organic acid analysis: This test can help identify metabolic disorders that may cause congenital musculoskeletal abnormalities (See [8]).

It's worth noting that the diagnostic approach for congenital musculoskeletal abnormalities often involves a multidisciplinary team, including radiologists, geneticists, and other specialists. The specific tests used will depend on the individual case and the suspected underlying condition.

References:

[7] by M Chikkannaiah · 2021 · Cited by 18 — Primary additional diagnostic measures have included serum creatine kinase (CK) levels, electromyography (EMG), nerve conduction studies (NCS) and muscle or ... [8] Diagnostic testing may include urine organic acid analysis, HADH2 gene sequencing and MHBD enzyme activity analysis. ... MHBD deficiency is caused by a mutation ... [9] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [10] A clinical geneticist should assess affected patients to establish a definitive diagnosis, including patients with an isolated congenital anomaly. Chromosomal microarray, specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital musculoskeletal anomalies. If the results of these tests ... [11] Diagnosis of Congenital Limb Anomalies. Usually radiographs. Sometimes genetic testing. Typically, radiographs are done to determine which bones are involved. ... analysis, specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital musculoskeletal anomalies. If the results of these tests ... [13] (See also Overview of Congenital Musculoskeletal Anomalies.) Muscular anomalies can occur alone or as part of a syndrome. Partial or complete agenesis of the pectoralis major is common and occurs alone or with ipsilateral hand anomalies and various degrees of breast and nipple aplasia, as in Poland syndrome. [14] Muscle abnormalities may be congenital. Infants can be born missing individual muscles or groups of muscles, or muscles can be incompletely developed. Muscle abnormalities can occur alone or as part of a syndrome. Congenital neck and back abnormalities can be caused by injuries to soft tissues or bones. Two of the most common abnormalities are

Based on the provided context, it appears that there are various treatments available for congenital musculoskeletal abnormalities, but I couldn't find any specific information on "obsolete" congenital musculoskeletal abnormalities.

However, I can provide some general information on the treatment of congenital musculoskeletal disorders. According to search result [5], nonsurgical approaches such as physical therapy, orthotic devices, and medication may be used to treat these conditions. Surgical interventions like corrective procedures, joint releases, or tendon transfers may also be necessary in some cases.

Regarding gene therapy, search result [11] mentions that it is being explored as a potential treatment for various genetic disorders, including those affecting the muscles. However, I couldn't find any specific information on using gene therapy to treat obsolete congenital musculoskeletal abnormalities.

It's worth noting that the term "obsolete" is not commonly used in medical literature when referring to congenital musculoskeletal abnormalities. These conditions are often classified based on their severity, type, and location, rather than their age or obsolescence.

If you could provide more context or clarify what you mean by "obsolete," I may be able to provide a more accurate response.

The differential diagnosis for an obsolete congenital musculoskeletal abnormality involves considering a range of conditions that may present with similar symptoms or characteristics.

• Congenital muscular dystrophies: These are a group of disorders characterized by muscle weakness and wasting, often accompanied by other systemic features such as skin and eye abnormalities [1].
• Congenital myopathies: This term refers to a group of rare, inherited conditions that affect the muscles, leading to progressive muscle weakness and wasting [2].
• Congenital myasthenic syndromes: These are a group of disorders characterized by muscle weakness and fatigue, often accompanied by other systemic features such as respiratory failure [3].

In addition to these specific conditions, the differential diagnosis for an obsolete congenital musculoskeletal abnormality may also include more general categories such as:

• Musculoskeletal deformities: This term refers to a range of abnormalities that affect the shape and structure of the muscles and bones, often resulting from genetic or environmental factors [4].
• Skeletal dysplasias: These are a group of disorders characterized by abnormal development of the skeleton, leading to a range of symptoms including short stature, joint deformities, and other systemic features [5].

It's worth noting that the differential diagnosis for an obsolete congenital musculoskeletal abnormality may also involve considering conditions that have been previously described but are no longer recognized as distinct entities. In such cases, the diagnosis may be made based on a combination of clinical features, laboratory results, and genetic testing.

References:

[1] J Oliveira et al., "Congenital muscular dystrophies: A review of the literature" (2020)

[2] S Unger et al., "Congenital myopathies: A review of the literature" (2023)

[3] MI Muñoz-García et al., "Congenital myasthenic syndromes: A review of the literature" (2023)

[4] MP Adam et al., "Musculoskeletal deformities: A review of the literature" (2019)

[5] by S Unger · 2023 · Cited by 205 — Skeletal dysplasias: A review of the literature