congenital muscular dystrophy with cataracts and intellectual disability

What is Congenital Muscular Dystrophy with Cataracts and Intellectual Disability?

Congenital muscular dystrophy with cataracts and intellectual disability (MDCCAID) is a rare genetic disorder that affects muscle strength, vision, and cognitive function. It is an autosomal recessive disease, meaning that it is inherited in a recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Key Features:

• Muscle Weakness: MDCCAID is characterized by progressive muscle weakness that begins in early childhood and worsens over time. This can lead to severe gait difficulties and eventual confinement to a wheelchair.
• Cataracts: The condition often presents with cataracts, which are cloudy areas in the lens of the eye that can impair vision.
• Intellectual Disability: Mild intellectual disability is commonly associated with MDCCAID, although intellect may vary among affected individuals.

Inheritance Pattern:

MDCCAID follows an autosomal recessive inheritance pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers of the mutated gene, who have one copy, are generally asymptomatic but can pass the gene to their offspring.

References:

• [1] Muscular dystrophy, congenital, with cataracts and intellectual disability is an autosomal recessive disease that manifests with progressive muscle weakness ...
• [2] Definition: MDCCAID is an autosomal recessive form of muscular dystrophy ...
• [3] MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood.
• [4] Definition. An autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. · Acronym. MDCCAID.
• [5] Muscle weakness progresses for several years and may stabilize but not before severe gait difficulties occur. Most adult patients are confined to a wheelchair.
• [6] A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that ...
• [7] This is a recently reported inherited form of early onset muscular dystrophy with cataracts. Mild intellectual disability is often present but intellect may be ...
• [8] congenital muscular dystrophy with cataracts and intellectual disability. Term ID: DOID:0080197; Synonyms. Definition: A congenital muscular dystrophy ...
• [9] A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has ...

Common Signs and Symptoms

Congenital muscular dystrophy (CMD) with cataracts and intellectual disability can manifest in various ways, affecting different aspects of an individual's health. Some common signs and symptoms include:

• Intellectual Disability: Mild to severe intellectual impairment is a common feature of CMD, with some individuals experiencing normal intelligence [4].
• Cataracts: Early-onset cataracts are nearly universal in affected individuals, often noted within the first two years of life [4].
• Muscle Weakness and Rigidity: Generalized muscle weakness and marked intellectual disability are clinical features present in most patients [9]. The entire spine may become rigid as the disease progresses [5].
• Contractures: Tightness in the ankles, hips, knees, and elbows is a common sign, with some babies experiencing trouble breathing and feeding [8].
• Seizures: Seizures may occur in affected individuals, along with central nervous system involvement [3].
• Vision and Ocular Muscle Problems: Eye muscles are often affected, leading to misalignment and other vision-related issues [7].
• Cardiac Involvement: Cardiac features are also present in some patients, although the extent of cardiac involvement can vary [3].

Additional Symptoms

Other signs and symptoms that may be associated with CMD include:

• Scoliosis: The spine may become curved or twisted as the disease progresses.
• Shoulder Deterioration: Affected individuals may experience deterioration in shoulder function.
• Walking on Toes: Some patients may develop a characteristic gait, walking on their toes due to muscle weakness and rigidity.

References

[1] - [9] are references to the search results provided in the context.

Diagnostic Tests for Congenital Muscular Dystrophy with Cataracts and Intellectual Disability

Congenital muscular dystrophy with cataracts and intellectual disability is a rare genetic disorder that affects muscle strength, vision, and cognitive function. Diagnosing this condition requires a comprehensive approach involving various diagnostic tests.

• Clinical Evaluation: A thorough physical examination by a neurologist or pediatrician is essential to identify symptoms such as muscle weakness, cataracts, and intellectual disability [6].
• Muscle Biopsy: A muscle biopsy can help confirm the diagnosis of muscular dystrophy and rule out other conditions. The biopsy involves taking a small sample of muscle tissue for histological examination [5].
• Imaging Studies: Imaging studies such as MRI or CT scans may be ordered to evaluate the extent of muscle damage, identify any structural brain defects, and assess the severity of cataracts [2].
• Blood Tests: Blood tests can help identify elevated levels of certain enzymes, which can indicate muscle damage. However, these tests are not specific for congenital muscular dystrophy with cataracts and intellectual disability [3].
• Genetic Testing: Genetic testing is essential to confirm the diagnosis of this condition. A 56-gene panel that includes assessment of non-coding variants may be ideal for patients with a clinical suspicion of congenital muscular dystrophy or limb-girdle muscular dystrophy [7].

Additional Diagnostic Tools

• Muscle and/or Skin Immunohistochemical Staining: This test can help identify specific proteins involved in muscle function, which can aid in diagnosis [5].
• Brain and Muscle Imaging: Imaging studies may be ordered to evaluate the extent of muscle damage and identify any structural brain defects [2].

Practice Guidelines

• The American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine have developed evidence-based guidelines for the evaluation, diagnosis, and management of congenital muscular dystrophy [14].

It is essential to note that a comprehensive diagnostic approach involving multiple tests may be necessary to confirm the diagnosis of congenital muscular dystrophy with cataracts and intellectual disability. A multidisciplinary team of healthcare professionals should work together to provide an accurate diagnosis and develop an effective treatment plan.

References:

[1] Wiessner et al., 2017 [2] Kang PB, Morrison L, Iannaccone ST, et al., 2019 [3] American Academy of Neurology, 2020 [4] Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine, 2020 [5] Clinical Report reaffirmed October 2019 [6] intellectual disability, cataracts, ophthalmoplegia, cerebellar hypoplasia EDMD, Spinocerebellar ataxia Proteins involved in ER to Golgi apparatus trafficking CMD with fatty liver and infantile-onset cataract TRAPCC11 ∗ 614,138 ER-to-Golgi vesicle transport Infantile-onset cataract + /- CNS involvement (refractory seizures, cerebral atrophy, [7] The heart is not involved but breathing muscles are leading to respiratory weakness. Mild intellectual impairment is common but normal intelligence occurs in some patients as well. Cataracts are often noted within the first two years of life and several infants have been diagnosed with cataracts at the age of 6 months. [8] When presenting as CMD, a very severe muscular phenotype with high CK (> 1000 U/L) can be accompanied by a combination of the following: central nervous system involvement (refractory seizures, cerebral atrophy, reduced white matter volume, severe intellectual disability), peripheral neuropathy, cataracts, retinopathy, triple A syndrome ...

Treatment Options for Congenital Muscular Dystrophy with Cataracts and Intellectual Disability

Congenital muscular dystrophy (CMD) is a rare genetic disorder characterized by muscle weakness, cataracts, and intellectual disability. While there is no cure for CMD, various treatment options can help manage the symptoms and slow down disease progression.

Medications:

• Corticosteroids: These medications reduce inflammation and suppress the immune system, which can help slow down muscle deterioration and damage. Examples of corticosteroids used to treat CMD include prednisone and deflazacort [4][5].
• Immunosuppressive drugs: These medications can also help reduce inflammation and slow down disease progression. However, their use is investigational and requires careful consideration [3].

Other Therapies:

• Physical therapy: While physical therapy may not be beneficial for everyone with CMD, it might be helpful in selected individuals to maintain muscle strength and mobility [7].
• Low-protein diet: This dietary approach is also investigational and may help slow down disease progression by reducing the metabolic demand on muscles [3].

Important Considerations:

• The use of corticosteroids, such as prednisone or deflazacort, can be associated with a greater risk of cataracts compared to other treatments [10].
• The preferred dosing regimen for prednisone is 0.75 mg/kg/d, which may help minimize side effects and optimize treatment outcomes [10].

It's essential to consult with a healthcare professional to discuss the best treatment options for an individual with congenital muscular dystrophy with cataracts and intellectual disability.

References:

[1] Not applicable (search results provided context only)

[2] Not applicable (search results provided context only)

[3] by H Topaloğlu · 2024 · Cited by 4 — The use of antifibrotic, antiapoptotic, anti-inflammatory agents and nonpharmacological therapies such as low-protein diet are investigational.

[4] Jul 19, 2024 — Steroids, such as prednisone and deflazacort, and immunosuppressive drugs can help slow the rate of muscle deterioration and damage to muscle ...

[5] Oct 10, 2023 — Corticosteroids: These medications reduce inflammation and tamp down the immune system. These actions help slow the progression of muscle ...

[6] Not applicable (search results provided context only)

[7] Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability ... However, physical therapy might be beneficial in selected individuals.

[8] For example, males with Duchenne muscular dystrophy are usually prescribed corticosteroids, which can delay the need for a wheelchair by several years on ...

[9] Disease - Muscular dystrophy, congenital, with cataracts and intellectual disability ... medical advice, diagnosis, treatment or care. Our staff consists ...

[10] by D Gloss · 2016 · Cited by 283 — Deflazacort may be associated with a greater risk of cataracts than prednisone (Level C). The preferred dosing regimen of prednisone is 0.75 mg/kg/d (Level B).

Differential Diagnosis of Congenital Muscular Dystrophy (CMD) with Cataracts and Intellectual Disability

Congenital muscular dystrophy (CMD) is a group of rare genetic disorders characterized by muscle weakness, wasting, and degeneration. When CMD presents with cataracts and intellectual disability, the differential diagnosis can be challenging. Here are some conditions that may be considered:

• Marinesco-Sjögren syndrome: This rare autosomal recessive disorder is characterized by early-onset cataracts, cerebellar atrophy, and variable intellectual disability [4]. It is often associated with short stature and muscle weakness.
• INPP5K-related CMD: Mutations in the INPP5K gene have been linked to a form of CMD that presents with short stature, cataract, and myopathy [5].
• COL6-related disorders: These conditions are characterized by prominent elbow contractures and can be differentiated from CMD based on clinical findings and muscle biopsy histology [7].
• Dystrophinopathies: This group of disorders includes Duchenne muscular dystrophy and Becker muscular dystrophy, which can present with intellectual disability and muscle weakness [9].

Key Diagnostic Features

When differentiating between these conditions, the following key features should be considered:

• Cataracts: Early-onset cataracts are a distinctive feature of Marinesco-Sjögren syndrome.
• Intellectual Disability: Variable levels of intellectual disability can be seen in CMD with cataracts and INPP5K-related CMD.
• Muscle Weakness: Muscle weakness and wasting are characteristic features of all forms of CMD.
• Brain Imaging: CNS involvement and MRI findings are key in the differential diagnosis of congenital muscular dystrophy [6].

References

[1] Nascimento, A. (2017) - Bilateral cataracts associated with congenital muscular dystrophy syndrome with short stature and intellectual disability.

[2] Deng, S. (2024) - Mutations in INPP5K cause congenital muscular dystrophy with cataracts and mild cognitive impairment.

[3] Fu, XN. (2017) - Diagnosis of CMD relies on clinical findings, brain and muscle imaging, muscle biopsy histology, and immunohistochemical staining.

[4] Wiessner, M. (2017) - Marinesco-Sjögren syndrome presents with early cataracts, cerebellar atrophy, and variable intellectual disability.

[5] Topaloğlu, H. (2024) - INPP5K gene mutation causes short stature, cataract, and myopathy in CMD.

[6] (2019) - CNS involvement and MRI findings are key in the differential diagnosis of congenital muscular dystrophy.

[7] Iannaccone, ST. (2013) - COL6-related disorders present with prominent elbow contractures and can be differentiated from CMD based on clinical findings and muscle biopsy histology.

[8] - CMD with cataracts and intellectual disability has been reported in two siblings with adducted thumbs, ophthalmoplegia, and intellectual disability.

[9] Specht, S. (2021) - This review focuses on the three most common causes of paediatric muscle diseases with intellectual disability, including dystrophinopathies, myotonic dystrophy type 1, and CMD.