autosomal recessive distal hereditary motor neuronopathy 7

Autosomal Recessive Distal Hereditary Motor Neuronopathy 7 (HMNR7)

Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is a rare genetic disorder characterized by the progressive degeneration of motor neurons in the lower limbs. The disease typically presents with weakness and wasting of the muscles in the lower legs, which can lead to difficulty climbing stairs and standing on the heels.

Symptoms

• Onset of lower leg weakness in the first decade
• Difficulty climbing stairs
• Problems standing on the heels
• Foot deformities
• Leg muscle atrophy

Progression

The disease is slowly progressive, meaning that it gradually worsens over time. In some cases, symptoms may not appear until adulthood.

Inheritance Pattern

HMNR7 is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

References

• [1] Description. Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is characterized by onset of lower leg weakness in the first decade. Affected individuals have difficulty climbing stairs and problems standing on the heels.
• [10] Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is characterized by onset of lower leg weakness in the first decade. Affected individuals have difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years.
• [11] Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is characterized by onset of lower leg weakness in the first decade. Affected individuals have difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy.
• [9] Disease Ontology Definition: An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and ...

Based on the search results, here are the signs and symptoms of autosomal recessive distal hereditary motor neuronopathy 7 (HMNR7):

• Distal muscle weakness: This is a key feature of HMNR7, affecting the muscles in the lower legs [5].
• Curled fingers: Some individuals with HMNR7 may experience curled fingers due to muscle weakness and wasting [6].
• Pes cavus foot deformities: Foot deformities are common in people with HMNR7, characterized by a high arch or "cavus" shape [6].
• Diminished deep tendon reflexes: Individuals with HMNR7 may have reduced deep tendon reflexes, indicating muscle weakness and nerve damage [6].

These symptoms typically begin in the first decade of life, affecting the lower legs and progressing over time. It's essential to note that these signs and symptoms can vary in severity and presentation among individuals with HMNR7.

References: [5] - Signs include distal muscle weakness with curled fingers, pes cavus foot deformities (Fig. 180.1D), and diminished deep tendon reflexes. [6] - Signs include distal muscle weakness with curled fingers, pes cavus foot deformities (Fig. 180.1D), and diminished deep tendon reflexes.

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive distal hereditary motor neuronopathy 7:

• Genetic testing: Diagnostic testing of the gene responsible for this condition can help identify a potential genetic basis for the condition. This type of testing can inform prognosis and clinical management [10].
• Neurophysiology testing: Neurophysiology testing, such as nerve conduction studies, can reveal reduced motor amplitude potentials, which is consistent with distal weakness and wasting [9].

It's worth noting that autosomal recessive distal hereditary motor neuronopathy 7 is a rare condition, and diagnostic tests may not be widely available. However, genetic testing and neurophysiology testing may be useful in confirming the diagnosis.

References: [10] - This type of testing can inform prognosis and clinical management. [9] - Neurophysiology testing reveals reduced motor amplitude potentials.

Based on the provided context, it appears that there is limited information available on the drug treatment for autosomal recessive distal hereditary motor neuronopathy 7 (dHMN-7). However, I can provide some general information on the topic.

Current Treatment Options

Unfortunately, there are no specific treatments mentioned in the search results for dHMN-7. This is likely due to the rarity of this condition and the limited research available on its treatment.

General Information on Drug Treatments for Neuromuscular Disorders

While there may not be specific information on drug treatments for dHMN-7, some general information on neuromuscular disorders can be found in search results 9 and 12. According to these sources:

• Other drugs such as ascorbic acid, creatine, curcumin, and ubiquinone have been helpful in rodent models with no demonstrable clinical benefit [9].
• The science of drugs (pharmacology) deals with all aspects of drugs in medicine, including their mechanism of action, physical and chemical properties, metabolism, therapeutics, and toxicity [12].

Potential Future Directions

It is possible that future research may uncover specific treatments for dHMN-7. However, based on the current search results, it appears that there are no established drug treatments for this condition.

In summary, while there is limited information available on the drug treatment of autosomal recessive distal hereditary motor neuronopathy 7 (dHMN-7), some general information on neuromuscular disorders and pharmacology can be found in search results.

Autosomal recessive distal hereditary motor neuronopathy 7 (HMNR7) is a rare genetic disorder characterized by the onset of lower leg weakness in the first decade [2][3][6]. When considering the differential diagnosis for HMNR7, several other conditions should be taken into account.

• Perry syndrome: This is another DCTN1-related neurodegeneration that can present with similar symptoms to HMNR7, including distal hereditary motor neuronopathy and frontotemporal dementia [1].
• Distal hereditary motor neuronopathies (dHMNs): These are a group of rare genetic disorders characterized by progressive weakness and atrophy of the distal muscles. While dHMNs are primarily motor in nature, some forms may also have minor sensory abnormalities [5]. In some cases, the same genetic mutation can lead to both dHMN and frontotemporal dementia.
• ALS4 (distal hereditary motor neuropathy with pyramidal features): This is a rare, juvenile onset, autosomal dominant form of ALS characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs [7].
• Autosomal dominant distal hereditary motor neuronopathy: This condition presents with slowly progressive distal atrophy and weakness affecting first the upper limbs, similar to HMNR7 [8].

It's essential to note that a comprehensive diagnostic evaluation is necessary to distinguish between these conditions. A detailed clinical history, physical examination, and genetic testing can help establish an accurate diagnosis.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [5] Context result 5 [7] Context result 7 [8] Context result 8