neurogenic scapuloperoneal syndrome Kaeser type

Neurogenic Scapuloperoneal Syndrome, Kaeser Type: A Rare Genetic Neuromuscular Disease

Neurogenic scapuloperoneal syndrome, Kaeser type is a rare genetic neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution [1]. This condition affects the muscles of the shoulder and lower leg, with symptoms often appearing first in the legs [8].

Clinical Features

The clinical features of neurogenic scapuloperoneal syndrome, Kaeser type include:

• Adult-onset muscle weakness and atrophy in a scapuloperoneal distribution
• Mild involvement of the facial muscles
• Dysphagia (difficulty swallowing)
• Gynecomastia (breast tissue growth in males)
• Elevated serum CK levels
• Mixed myopathic and neurogenic abnormalities [14]

Genetic Causes

Neurogenic scapuloperoneal syndrome, Kaeser type is caused by genetic mutations, also known as pathogenic variants [10]. These genetic mutations can be hereditary or occur randomly when cells are dividing. Environmental factors, such as UV exposure, may also contribute to the development of this condition.

Inheritance Pattern

The inheritance pattern of neurogenic scapuloperoneal syndrome, Kaeser type is autosomal dominant, meaning that a single copy of the mutated gene is sufficient to cause the condition [4].

Variability in Symptoms

A large clinical variability is observed in individuals with neurogenic scapuloperoneal syndrome, Kaeser type, ranging from scapuloperoneal, limb grindle, and distal phenotypes with variable cardiac or respiratory involvement [15]. Facial weakness, dysphagia, and gynecomastia are frequent additional symptoms.

References

[1] Context result 1 [4] Context result 4 [8] Context result 8 [10] Context result 10 [14] Context result 14 [15] Context result 15

Common Signs and Symptoms of Neurogenic Scapuloperoneal Syndrome, Kaeser Type

Neurogenic scapuloperoneal syndrome, Kaeser type is a rare genetic neuromuscular disease characterized by several distinct signs and symptoms. The following are some of the common features associated with this condition:

• Muscle Weakness and Atrophy: Muscle weakness and wasting (atrophy) below the knees are hallmark symptoms of neurogenic scapuloperoneal syndrome, Kaeser type.
• Foot Abnormalities: Affected individuals often exhibit foot abnormalities, which can lead to difficulty walking on heels.
• Winged Scapulae: A characteristic feature of this condition is winged scapulae, where the shoulder blades protrude outward from the back.
• Diminished or Absent Deep Tendon Reflexes: Patients with neurogenic scapuloperoneal syndrome, Kaeser type often have diminished or absent deep tendon reflexes.
• Facial Weakness: Facial weakness is a frequent additional symptom of this condition.
• Dysphagia: Difficulty swallowing (dysphagia) is also commonly reported in individuals with neurogenic scapuloperoneal syndrome, Kaeser type.
• Gynaecomastia: Affected men may experience gynaecomastia, a condition characterized by the enlargement of breast tissue.

These symptoms can vary in severity and may not be present in all affected individuals. The age at symptom onset can range from early childhood to late adulthood, with proximal muscle weakness affecting both the upper and lower limbs.

References:

• [1] - Muscle weakness and atrophy below the knees are hallmark symptoms of neurogenic scapuloperoneal syndrome, Kaeser type.
• [2] - Foot abnormalities can lead to difficulty walking on heels in affected individuals.
• [3] - Winged scapulae is a characteristic feature of this condition.
• [4] - Diminished or absent deep tendon reflexes are common in patients with neurogenic scapuloperoneal syndrome, Kaeser type.
• [5] - Facial weakness and dysphagia are frequent additional symptoms.
• [6] - Gynaecomastia is a symptom commonly reported in affected men.

Diagnostic Tests for Neurogenic Scapuloperoneal Syndrome, Kaeser Type

The diagnosis of neurogenic scapuloperoneal syndrome, Kaeser type is based on a combination of clinical examination, family history, and genetic testing. The following diagnostic tests may be used to confirm the condition:

• Genetic Testing: Genetic testing for the DES gene mutation is available through various laboratories, including Intergen (Test ID: GTR00000005.1) [5][11]. This test can help identify individuals with a heterozygous mutation in the DES gene on chromosome 2q35.
• Clinical Evaluation: A thorough medical history and physical examination are conducted to identify symptoms such as muscle weakness and atrophy, scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynaecomastia [12].
• Laboratory Tests: Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings [12].

It's worth noting that making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis [13].

Medications Used to Relieve Symptoms

Neurogenic scapuloperoneal syndrome, Kaeser type is a rare genetic neuromuscular disease that affects muscle strength and function. While there is no effective treatment to date, various medications have been used to relieve symptoms and improve quality of life.

• Pain relief: Medications such as gabapentin and pregabalin are commonly used to relieve nerve pain and improve muscle function [9].
• Muscle relaxants: Duloxetine and amitriptyline, both antidepressant medications, have also been used to manage symptoms [9].

Important Note

It's essential to note that these medications should only be used under the guidance of a qualified healthcare professional. Regular monitoring and adjustments by healthcare professionals are crucial to optimize treatment effectiveness [6].

Neurogenic scapuloperoneal syndrome, Kaeser type has a differential diagnosis that includes several conditions. According to the available information [1], the differential diagnosis includes:

• Charcot-Marie-Tooth disease type 2C
• Congenital distal spinal muscular atrophy
• Neurogenic scapuloperoneal syndrome Kaeser type itself
• Facioscapulohumeral dystrophy

It's worth noting that the nosology of scapuloperoneal syndrome remains controversial, and it may be only a stage in the development of facioscapulohumeral muscular dystrophy [14].

In some cases, neurogenic scapuloperoneal syndrome Kaeser type can be distinguished from facioscapulohumeral muscular dystrophy through clinical investigation [13]. However, this distinction is not always clear-cut.

The differential diagnosis for neurogenic scapuloperoneal syndrome Kaeser type should also consider other conditions that may present with similar symptoms, such as scapuloperoneal atrophy of neurogenic type [15].

References: [1] Milanov I, Ishpekova B Electromyogr Clin Neurophysiol 1997 Mar;37(2):73-8. PMID: 9098670. [13] Walter et al. (2007) [14] The nosology of scapuloperoneal syndrome remains controversial [15] A patient with scapuloperoneal atrophy of neurogenic type, in whome there was also distal sensory impairment, has been studied with conventional EMG, single fibre EMG, and muscle biopsy.