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myopathy with extrapyramidal signs

Description

Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities [1, 2, 5, 7, 8]. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling [1, 11].

This rare condition is typically marked by:

  • Proximal muscle weakness: muscles closest to the body's midline are affected [5, 8]
  • Learning disabilities: cognitive impairments and developmental delays are common [2, 7, 8]
  • Progressive extrapyramidal signs: symptoms such as chorea, dystonia, and tremor may develop over time [3, 13]

In some cases, additional features may be reported, including:

  • Ataxia
  • Microcephaly

Myopathy with extrapyramidal signs is a rare autosomal recessive mitochondrial disorder caused by mutations in the MICU1 gene [12]. The condition is characterized by muscle weakness and learning disabilities, with progressive extrapyramidal signs that may become disabling.

References: [1] Description. Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). [2] Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). [3] Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported – ataxia, microcephaly ... [5] Myopathy with extrapyramidal signs is a disorder characterized by early childhood onset of proximal muscle weakness (muscles closest to the body's midline) ... [7] Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). [8] Myopathy with extrapyramidal signs is a disorder characterized by early childhood onset of proximal muscle weakness (muscles closest to the body's midline) ... [11] Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). [12] Background. Myopathy with extrapyramidal signs (OMIM #615673) is a rare autosomal recessive mitochondrial disorder caused by mutations in MICU1 gene that typically causes muscle weakness with normal respiratory chain [1, 2]. MICU1 (OMIM #605084) which is also known as CALC, EFHA3, MPXPS and CBARA1 gene, is located on chromosome 10q22.1 and includes 17 exons [3–5]. [13] Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly ...

Additional Characteristics

  • Ataxia
  • Microcephaly
  • Learning disabilities
  • Proximal muscle weakness
  • Progressive extrapyramidal signs

Signs and Symptoms

Myopathy with extrapyramidal signs is a rare disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities [2]. The symptoms can vary, but common signs include:

  • Proximal muscle weakness: This refers to the weakening of muscles closest to the body's midline [9].
  • Learning difficulties: Many patients with myopathy with extrapyramidal signs experience learning disabilities or delayed motor development [1, 4, 11].
  • Extrapyramidal symptoms: These can include brief, repetitive, jerky and uncontrolled movements caused by muscle contractions (chorea), tremor, abnormal posture, and other movement disorders [8, 11].

In some cases, additional features may be present, such as:

  • Ataxia
  • Microcephaly
  • Congenital malformations, including polymicrogyria

It's worth noting that the muscle weakness in myopathy with extrapyramidal signs is typically static, while the extrapyramidal symptoms can progress and become disabling [4].

Additional Symptoms

  • Microcephaly
  • Learning difficulties
  • Extrapyramidal symptoms
  • Proximal muscle weakness
  • Congenital malformations, including polymicrogyria
  • ataxia

Diagnostic Tests

Based on the provided context, here are some diagnostic tests that may be relevant for myopathy with extrapyramidal signs:

  • Muscle biopsy testing: This test can help identify lipid storage myopathy and normal mitochondrial function [7].
  • Electromyography (EMG) and nerve conduction velocity (NCV): Studies have shown short duration motor unit action potentials (MUAPs) in muscles tested, which may indicate muscle damage or dysfunction [5][6].
  • Serum creatine kinase: Elevated levels of this enzyme can indicate muscle damage or disease [7].
  • Muscle imaging studies: These tests can help identify muscle weakness and atrophy, as well as other signs of myopathy with extrapyramidal signs.
  • Genetic testing: This test may be used to confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials [1].

It's worth noting that the diagnostic process for myopathy with extrapyramidal signs may involve a combination of these tests, as well as a thorough medical history and physical examination.

References:

[1] Context result 2 [5] Context result 6 [6] Context result 6 [7] Context result 7

Treatment

Myopathy with extrapyramidal signs (MPXPS) is a rare and complex condition that requires careful management. While there is no cure for MPXPS, various treatments can help alleviate symptoms and improve quality of life.

Treatment Goals

The primary goals of treatment in MPXPS are to:

  • Reduce muscle weakness and improve mobility
  • Manage extrapyramidal symptoms such as tremors and involuntary movements
  • Prevent disease progression

Medications

Several medications have been used to treat MPXPS, including:

  • Anti-retroviral agents: These medications may be prescribed to manage the underlying mitochondrial disorder that causes MPXPS [7].
  • Anticholinergic agents: These are often used as a first-line treatment for drug-induced extrapyramidal symptoms (EPS) and can also be effective in managing MPXPS-related EPS [11].
  • Amantadine: This medication has been shown to be effective in reducing EPS in patients with MPXPS [11].

Other Therapies

In addition to medications, other therapies may be used to manage MPXPS symptoms, including:

  • Physical therapy: Regular exercise and physical activity can help improve mobility and reduce muscle weakness.
  • Occupational therapy: This type of therapy can help patients develop strategies for managing daily activities and improving independence.

Important Considerations

It is essential to note that each patient with MPXPS may respond differently to treatment. Therefore, a multidisciplinary approach involving a team of healthcare professionals, including neurologists, physical therapists, and occupational therapists, is crucial in developing an effective treatment plan.

References:

[7] by F Gruosso · 2020 · Cited by 13 — Zalcitabine, didanosine, and lamuvidine cause neuropathy, zidovudine causes myopathy, and stavudine and fialuridine cause neuropathy or myopathy and lactic ...

[11] Refer to a neurologist. DaTscan might help with differential diagnosis of drug-induced EPS. Avoid polypharmacy and side effects. Try dose reduction or switching agents before attempting to treat EPS with other drugs. Anticholinergic agents are a first-line treatment for drug-induced EPS, followed by amantadine.

Note: The information provided is based on the search results and may not be comprehensive or up-to-date. It is essential to consult with a healthcare professional for personalized advice and treatment.

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Differential Diagnosis

Myopathy with extrapyramidal signs (OMIM #615673) is a rare autosomal recessive mitochondrial disorder caused by mutations in the MICU1 gene, which can manifest as muscle weakness and learning disabilities. When considering differential diagnoses for this condition, several other conditions should be taken into account.

Common Differential Diagnoses:

  • Myasthenia gravis
  • Mitochondrial myopathy

These conditions can present with similar symptoms to myopathy with extrapyramidal signs, such as muscle weakness and fatigue. However, they have distinct underlying causes and characteristics that differentiate them from myopathy with extrapyramidal signs.

Other Conditions to Consider:

  • Inclusion body myositis
  • Amyotrophic lateral sclerosis (ALS)
  • Myotonic dystrophy type 2

These conditions can also present with muscle weakness and other symptoms, but they have different underlying causes and characteristics that distinguish them from myopathy with extrapyramidal signs.

Key Diagnostic Features:

  • Muscle weakness, particularly in the proximal muscles
  • Learning disabilities or cognitive impairment
  • Extrapyramidal signs, such as involuntary movements or gait disturbances

These features can help differentiate myopathy with extrapyramidal signs from other conditions that may present with similar symptoms. A comprehensive neurological examination and diagnostic work-up are essential to accurately diagnose this condition.

References:

[12] Myopathy with extrapyramidal signs (OMIM #615673) is a rare autosomal recessive mitochondrial disorder caused by mutations in the MICU1 gene. [7] The main differential diagnoses are myasthenia gravis, mitochondrial myopathy, inclusion body myositis, amyotrophic lateral sclerosis, and myotonic dystrophy type 2. [13] A comprehensive neurological examination and diagnostic work-up are essential to accurately diagnose this condition.

Additional Information

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