autosomal dominant distal hereditary motor neuronopathy 12

Autosomal dominant distal hereditary motor neuronopathy 12 (HMND12) is a rare neurologic disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy. The signs and symptoms of HMND12 typically begin during the first or second decade of life.

Primary Symptoms:

• Distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles
• Abnormal gait due to lower leg involvement
• Pes cavus (high arches) in the feet

Additional Features:

• Hammertoe deformity
• Upper limb muscle weakness
• Distal amyotrophy (muscle wasting in the distal limbs)
• Foot deformity is a common feature, with pes cavus being a hallmark of this condition.

These symptoms are often progressive and can lead to significant disability if left untreated. The severity and age of onset can vary widely among individuals, making it essential for early diagnosis and management by a qualified healthcare professional.

References: [12] Beetz C, et al. (2012) - This study provides an overview of the clinical features of HMND12. [13] Clinical features listed in this context provide additional information on the symptoms associated with HMND12. [14] Foot deformity and other complications are discussed in this reference. [15] A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands.

Based on the provided context, here are some diagnostic tests associated with autosomal dominant distal hereditary motor neuronopathy:

• Clinical Molecular Genetics test: This test can be used to diagnose Neuronopathy, distal hereditary motor, autosomal dominant 1 and involves Deletion/duplication analysis, Next-Generation sequencing [1].
• Genetic testing: In addition to clinical presentation, nerve conduction studies, and family history, genetic testing can be used to diagnose specific inherited peripheral neuropathies, including autosomal dominant distal hereditary motor neuronopathy [4].
• Nerve conduction studies: These tests reveal reduced motor amplitude potentials with no sensory abnormalities, which is a characteristic feature of this condition [5].
• Electromyography (EMG) testing: EMG may reveal a predominantly distal pattern of muscle atrophy and weakness [5].

It's worth noting that the diagnosis of autosomal dominant distal hereditary motor neuronopathy can be challenging and often requires a combination of clinical, electrophysiological, and genetic evaluations.

References: [1] - Clinical Molecular Genetics test for Neuronopathy, distal hereditary motor, autosomal dominant 1 [4] - In addition to clinical presentation, nerve conduction studies, and family history, genetic testing can be used to diagnose specific inherited peripheral neuropathies [5] - Neurophysiology testing reveals reduced motor amplitude potentials with no sensory abnormalities

The differential diagnosis for autosomal dominant distal hereditary motor neuronopathy (dHMN) includes several conditions that can present with similar symptoms.

• Juvenile forms of amyotrophic lateral sclerosis (ALS): These are a group of rare, inherited disorders characterized by progressive muscle weakness and atrophy. They can be caused by variations in the same genes that cause dHMN.
• Hereditary spastic paraplegia: This is a group of genetic disorders that affect the nervous system and cause progressive muscle weakness and stiffness