myoclonic dystonia 11

Myoclonus-dystonia 11 (M-D 11), also known as SGCE myoclonus-dystonia syndrome, is a rare and complex neurological movement disorder.

Characteristics:

• Myoclonus: Characterized by rapid, brief muscle contractions (myoclonic jerks) affecting mostly proximal muscles [1].
• Dystonia: Often accompanied by dystonic symptoms such as torticollis or other sustained involuntary muscle contractions [2-3].
• Inheritance: Autosomal-dominant genetic disorder with incomplete penetrance, meaning that not everyone who inherits the mutated gene will develop the condition [5].

Symptoms:

• Myoclonic jerks affecting proximal muscles
• Dystonic symptoms such as torticollis or other sustained involuntary muscle contractions
• Mild to moderate dystonia along with 'lightning-like' myoclonic jerks [9]

Genetics:

• The condition is caused by a mutation in the SGCE gene, which codes for a protein involved in neurotransmitter release and synaptic plasticity [8].

Overall, Myoclonus-dystonia 11 is a rare and complex movement disorder that affects individuals worldwide. Its symptoms can vary widely among affected individuals, making it challenging to diagnose and manage.

References:

[1] - SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained involuntary muscle contractions (dystonia).

[2-3] - Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting proximal muscles, often accompanied by dystonia such as torticollis.

[5] - Myoclonus dystonia (DYT11) is an autosomal-dominant genetic disorder with incomplete penetrance that is characterized by myoclonus as the presenting symptom and dystonia in some cases.

[8] - Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.

[9] - is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Signs and Symptoms of Myoclonic Dystonia

Myoclonic dystonia, also known as myoclonus-dystonia syndrome, is a rare movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia).

Common Symptoms:

• Abnormal, sometimes painful, repetitive movements usually in the arms, trunk, and neck
• Myoclonic jerks
• Psychological symptoms such as:
  • Obsessive-compulsive disorder (OCD)
  • Anxiety or lowered mood (depression)

These psychological impacts are more likely if the myoclonus dystonia is caused by a mutation within the SGCE gene [14].

Other Possible Symptoms:

• Vomiting
• Choking
• Confusion
• Slow or irregular breathing
• Pale or blue-tinged skin
• Seizures
• Low body temperature

These symptoms can vary in severity and may be accompanied by other neurological symptoms [9].

Symptom Onset:

• Symptoms typically begin in childhood or early adolescence but may also first appear in adulthood.
• Some individuals experience a dramatic decrease of the myoclonus jerking symptoms, and sometimes improvement of dystonia, upon ingesting alcohol [13].

Myoclonic dystonia 11, also known as SGCE myoclonus-dystonia (SGCE-M-D), is a movement disorder characterized by rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The diagnostic process for this condition typically involves a thorough medical and familiar history, a physical examination to assess motor

Myoclonic dystonia (M-D) is a rare movement disorder characterized by involuntary muscle contractions and spasms, often accompanied by dystonic movements. While there is no cure for M-D, various drug treatments can help manage its symptoms.

Oral Medications

Several oral medications have been used to treat M-D, including:

• Benzodiazepines (such as clonazepam) [4]
• Valproic acid [3]
• Gabapentin [3]
• Trihexyphenidyl is the most frequently employed medication for dystonia in adults and children with generally good efficacy and overall good safety profile at therapeutic doses. [2]

These medications can help reduce muscle spasms, improve motor function, and alleviate symptoms of M-D.

Other Treatment Options

In addition to oral medications, other treatment options may be considered, including:

• Deep brain stimulation (DBS) [7]
• Physical therapy, occupational therapy, and complementary therapies [5]

It's essential to consult with a healthcare professional to determine the best course of treatment for individual cases of M-D.

References: [1] AY Luciano · 2014 · Cited by 42 — [2] by C Fearon · 2020 · Cited by 14 — [3] by AY Luciano · 2014 · Cited by 42 — [4] Jan 13, 2023 — [5] A disorder characterized by dystonia and myonlonus symptoms · [7] Apr 8, 2016 —

Myoclonic dystonia 11 (M-D 11) is a rare genetic disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and sustained twisting and repetitive movements that result in abnormal postures (dystonia). When diagnosing M-D 11, it's essential to consider the differential diagnosis, which includes other conditions that may present with similar symptoms.

Conditions to Consider:

• EPM1: A genetic disorder caused by mutations in the PRKN gene, characterized by myoclonus and dystonia. EPM1 patients often have frequent generalized seizures that are difficult to control with antiepileptic medications.
• EPM2: Another genetic disorder caused by mutations in the SGCE gene, which is also associated with M-D 11. EPM2 patients typically present with multifocal myoclonus, often asymmetric and movement-induced.
• Thalamic lesions: Unilateral asterixis may be seen in thalamic lesions, which can mimic the symptoms of M-D 11.
• Wilson disease: A genetic disorder caused by mutations in the ATP7B gene, characterized by copper accumulation in the brain and other organs. Wilson disease can present with myoclonus and dystonia.
• Whipple's disease: A rare bacterial infection that can cause a range of neurological symptoms, including myoclonus and dystonia.

Diagnostic Process:

The diagnostic process for M-D 11 typically involves a thorough medical and familial history, a physical examination to assess motor function, and sometimes genetic testing. It's essential to rule out other conditions with similar symptoms through a comprehensive evaluation.

References:

• [12] Clinical resource with information about Myoclonic dystonia 11 and its clinical features.
• [14] Myoclonic dystonia. Multifocal myoclonus, often asymmetric & movement-induced: Spontaneous multifocal, can be reflex ...
• [15] The dystonias are a heterogeneous group of hyperkinetic movement disorders characterised by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements.

Please note that this information is for educational purposes only and should not be used as a substitute for professional medical advice. If you suspect someone has M-D 11 or any other condition, it's essential to consult with a qualified healthcare provider for an accurate diagnosis and treatment plan.