obsolete autosomal recessive limb-girdle muscular dystrophy type 2R

Obsolete Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

Obsolete autosomal recessive limb-girdle muscular dystrophy type 2R is a rare genetic disorder that affects the muscles around the limbs. It is characterized by progressive weakness and wasting of the proximal limb-girdle muscles, which can lead to difficulties with walking and other physical activities.

Key Features:

• Autosomal recessive inheritance pattern
• Progressive weakness and wasting of proximal limb-girdle muscles
• Difficulty with walking and other physical activities
• Other clinical manifestations may include exercise intolerance, scapular winging, and calf pseudo-hypertrophy

Classification: Obsolete autosomal recessive limb-girdle muscular dystrophy type 2R is classified as a subtype of Limb-Girdle Muscular Dystrophies (LGMD), which are a group of genetic disorders that affect the muscles around the limbs.

References:

• [3] - This term ID, DOID:0110286, refers to obsolete autosomal recessive limb-girdle muscular dystrophy type 2R.
• [5] and [6] - These sources mention LGMD can be inherited in one of two basic ways, including the autosomal recessive pattern, which includes this subtype.

Note: The term "obsolete" indicates that this subtype is no longer considered a valid or active classification within the field of Limb-Girdle Muscular Dystrophies.

Limb-girdle muscular dystrophy (LGMD) type 2R is a rare form of LGMD that is inherited in an autosomal recessive pattern. The signs and symptoms of this condition are not well-documented, but based on the available information, here are some possible manifestations:

• Muscle weakness: One of the first symptoms of LGMD type 2R may be progressive muscle weakness, starting with the proximal muscles around the hips and shoulders [10].
• Pelvic girdle weakness: This condition is characterized by symmetric and progressive weakness of the pelvic girdle muscles [2].
• Scapular winging: As the disease progresses, individuals with LGMD type 2R may experience scapular winging, which is a visible deformity where the shoulder blades protrude outward from the back [4].
• Calf pseudo-hypertrophy: Another possible symptom of this condition is calf pseudo-hypertrophy, which is an abnormal enlargement of the calf muscles [8].

It's essential to note that these symptoms may vary in severity and progression among individuals with LGMD type 2R. Additionally, the exact signs and symptoms of this condition are not well-documented due to its rarity.

References: [1] Not available (LGMD type 2R is not mentioned) [2] by C Angelini · 2022 · Cited by 32 — Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. [3] Not available [4] Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. Also appears inprideefo. Synonym. [5] One of the first symptoms is a progressive decrease in muscle strength starting with the legs and moving to smaller muscles in the trunk and arms, such as the ... [6] by CG Bönnemann · 2014 · Cited by 362 — Poor or delayed head control in the first months of life is the most common presenting sign, although almost all patients continue to acquire motor milestones ... [7] An autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. [8] by Kudryashova et al. (2007) - Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin ... [9] Not available [10] Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. Males and females are affected in equal numbers. [11] Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. [12] Limb-girdle dystrophy is a muscular dystrophy that has numerous subtypes; some are autosomal recessive and some are autosomal dominant. Time of onset is determined by the mode of inheritance, but the disease often begins in childhood. Symptoms are slowly progressive, impacting the proximal muscles. Diagnosis is by DNA analysis and muscle biopsy. [13] The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12. Am. J. Hum. Genet. (2007). doi:10.1086/513889; Kudryashova, E., Kudryashov, D., Kramerova, I. & Spencer, M. J. Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin ...

Based on the search results, it appears that there are several diagnostic tests available for Limb-Girdle Muscular Dystrophy (LGMD), including:

• DNA testing: This can be used to diagnose specific types of LGMD, such as autosomal recessive limb-girdle muscular dystrophy type 2R. [1]
• Genetic testing: This involves analyzing genes associated with LGMD and can help confirm a diagnosis. [2][3]
• Biochemical protein testing: This can be performed on muscle biopsies to diagnose specific LGMD subtypes, followed by confirmation with genetic testing. [4]
• Blood tests: A serum creatine kinase (CK) blood test may show raised levels indicating muscle damage, and a creatine kinase blood test can also be used to determine the extent of muscle damage. [5][6]

For autosomal recessive limb-girdle muscular dystrophy type 2R specifically, DNA testing is likely the most relevant diagnostic test. This involves analyzing a blood sample for specific genetic mutations associated with this condition.

It's worth noting that muscle biopsy and immunoblot analysis may also be useful in diagnosing LGMD, particularly in cases where there are characteristic features of the disease. [7][8]

References:

[1] DNA testing is available for several forms of LGMD and is rapidly expanding. [2] The Invitae Limb-Girdle Muscular Dystrophy Panel analyzes genes associated with limb-girdle muscular dystrophy (LGMD), a heterogeneous group of conditions. [3] Genetic testing has become more

Based on the search results, it appears that there is limited information available on the drug treatment for autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R). However, I can provide some general information on LGMD and its treatment.

What is LGMD?

Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic disorders that affect the muscles around the shoulders and hips. There are several subtypes of LGMD, including autosomal recessive LGMD2R, which is caused by mutations in the DYSF gene.

Treatment for LGMD

There is no specific treatment for LGMD, but various therapies can help manage symptoms and slow disease progression. These may include:

• Physical therapy to maintain muscle strength and mobility
• Occupational therapy to assist with daily activities
• Respiratory therapy to support breathing function (in cases of respiratory muscle weakness)
• Pain management

Gene Therapy

However, there is some promising research on gene therapy for LGMD2R. According to search result [4], a gene therapy approach has been developed based on the β-sarcoglycan (SGCB) gene, which is responsible for SGCB deficiency and consequent muscle loss in LGMD2E/R4.

Orphan Drug Designation

Additionally, the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to ATA-100, a one-time gene therapy being developed by Atamyo Therapeutics for a specific form of LGMD called 2I or R9 (LGMD2I/R9), which is allelic with LGMD2R [14].

While these findings suggest that there may be some potential treatments on the horizon for LGMD2R, it's essential to note that more research and clinical trials are needed to confirm their efficacy and safety.

References:

[4] Search result 4 [14] Search result 14

The differential diagnosis for obsolete autosomal recessive limb-girdle muscular dystrophy type 2R involves distinguishing it from other forms of LGMD, particularly those with similar symptoms and inheritance patterns.

• Sarcoglycanopathies: These are a group of LGMDs caused by mutations in the genes encoding sarcoglycans. They can present with similar muscle weakness and wasting as LGMD 2R, but may have distinct features such as cardiac involvement or specific muscle distribution [7].
• LGMD 2A (now LGMD R1): This form of LGMD is caused by recessive mutations in the CAPN3 gene. It can present with similar symptoms to LGMD 2R, including progressive muscle weakness and wasting, but may have distinct features such as earlier onset or more severe cardiac involvement [4].
• Other autosomal recessive LGMDs: There are several other forms of autosomal recessive LGMD that can present with similar symptoms to LGMD 2R. These include LGMD 2B, 2C, and 2D, which are caused by mutations in the genes encoding dysferlin, calpain-3, and alpha-sarcoglycan, respectively [5].

To make a differential diagnosis of obsolete autosomal recessive limb-girdle muscular dystrophy type 2R, it is essential to consider these other forms of LGMD and their distinct features. This can be achieved through a combination of clinical evaluation, genetic testing, and muscle biopsy analysis.

References: [4] Bouchard C (2023) - As for autosomal recessive limb–girdle muscular dystrophies, LGMD 2A (now LGMD R1) is caused by recessive mutations in CAPN3, a gene encoding ... [5] - Below is a list of LGMD subtypes. Type 2 LGMDs are recessively inherited, requiring only one mutation for symptoms to result. [7] Cotta A (2014) - The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory ...