Neurogenic scapuloperoneal syndrome, Kaeser type is a rare genetic disorder characterized by progressive muscle weakness and wasting (atrophy) of the shoulder and arm muscles (scapuloperoneal syndrome) and a distinctive facial appearance. It is caused by a mutation in the DCTN1 gene, which is responsible for the production of a protein called dynactin. Symptoms usually begin in childhood and may include muscle weakness and wasting, facial abnormalities, and intellectual disability.

The symptoms of Neurogenic scapuloperoneal syndrome, Kaeser type, include:

-Weakness and wasting of the shoulder and arm muscles
-Weakness and wasting of the muscles of the lower back, hips, and legs
-Loss of sensation in the arms and legs
-Loss of reflexes in the arms and legs
-Muscle twitching
-Difficulty walking
-Difficulty with fine motor skills
-Difficulty with speech
-Difficulty swallowing
-Scoliosis
-Kyphosis
-Contractures of the elbows, wrists, and fingers
-Abnormal curvature of the spine
-Abnormal gait
-Abnormal posture
-Abnormal breathing patterns
-Abnormal eye movements
-Abnormal facial expressions
-Abnormal speech patterns
-Abnormal

Neurogenic scapuloperoneal syndrome, Kaeser type is a rare genetic disorder caused by mutations in the DNM2 gene. The DNM2 gene provides instructions for making a protein that is involved in the formation of nerve cells. Mutations in this gene lead to the disruption of the normal development of nerve cells, resulting in the signs and symptoms of this disorder.

1. Physical therapy: Physical therapy is used to help improve strength, flexibility, and range of motion in the affected muscles.

2. Occupational therapy: Occupational therapy can help improve coordination and fine motor skills.

3. Surgery: Surgery may be recommended to correct any structural abnormalities in the shoulder or arm.

4. Medications: Medications such as muscle relaxants, pain relievers, and anti-inflammatory drugs may be prescribed to help reduce pain and inflammation.

5. Botulinum toxin injections: Botulinum toxin injections may be used to help reduce muscle spasms and improve range of motion.

6. Electrical stimulation: Electrical stimulation may be used to help improve muscle strength and coordination.

1. Autosomal dominant inheritance
2. Mutations in the MYH7 gene
3. Age of onset typically between 20-40 years
4. Weakness of the shoulder girdle and upper arm muscles
5. Weakness of the forearm and hand muscles
6. Weakness of the lower leg muscles
7. Scapular winging
8. Scapular dyskinesia
9. Peroneal muscle atrophy
10. Foot drop
11. Distal sensory loss
12. Cardiac conduction defects
13. Abnormalities of the eye muscles
14. Abnormalities of the facial muscles
15. Abnormalities of the tongue muscles

At this time, there is no known cure for Neurogenic scapuloperoneal syndrome, Kaeser type. Treatment is focused on managing the symptoms and preventing further complications. Medications such as muscle relaxants, anticonvulsants, and pain relievers may be prescribed to help manage muscle spasms and pain. Physical therapy and occupational therapy may also be recommended to help maintain muscle strength and range of motion. Surgery may be recommended in some cases to help improve mobility and reduce pain.