autosomal recessive distal hereditary motor neuronopathy 5

Autosomal Recessive Distal Hereditary Motor Neuronopathy 5 (HMNR5)

Autosomal recessive distal hereditary motor neuronopathy 5, also known as HMNR5, is a rare genetic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy. This condition results in gait impairment and loss of reflexes due to impaired function of

Autosomal recessive distal hereditary motor neuronopathy 5 (HMND5) is a rare neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy. The symptoms typically start in young adulthood, with the following signs and symptoms being commonly associated with this condition:

• Distal muscle weakness: This is the primary symptom of HMND5, affecting the muscles in the hands and feet.
• Muscle wasting: As the disease progresses, there is a noticeable wasting away of the affected muscles.
• Hypotonia: Individuals with HMND5 may experience decreased muscle tone, making it difficult to maintain posture or perform physical activities.
• Foot deformity: A common feature of HMND5 is foot deformity, which can range from mild to severe.

It's worth noting that the symptoms of HMND5 are similar to those of other distal hereditary motor neuropathies, but the autosomal recessive inheritance pattern and young adult onset distinguish it from these conditions.

Based on the provided context, it appears that diagnostic tests for autosomal recessive distal hereditary motor neuronopathy 5 (dHMN5) are available.

According to search result [12], clinical resources and genetic tests from US labs are available for dHMN5. Additionally, search result [5] mentions a Clinical Genetic Test offered by HNL Genomics Connective Tissue Gene Tests for conditions including Neuronopathy, distal hereditary motor, autosomal dominant 1; however, it's worth noting that this test is not specifically for the autosomal recessive form.

Furthermore, search result [13] provides information on genetic testing for dHMN patients, mentioning mutations in genes such as HSPB1, GARS, BICD2, and DNAJB2. While this does not directly mention diagnostic tests for dHMN5, it suggests that genetic testing may be a useful tool in diagnosing this condition.

Search result [6] also mentions the use of genetic testing to diagnose specific inherited peripheral neuropathies, which could potentially include dHMN5.

It's worth noting that search result [3] provides information on clinical phenotype and electrophysiology for guiding genetic testing for CMT subtype diagnosis, but it does not specifically mention diagnostic tests for dHMN5.

In summary, while the exact diagnostic tests available for autosomal recessive distal hereditary motor neuronopathy 5 are not explicitly stated in the provided context, it appears that clinical resources and genetic tests from US labs may be available. Additionally, genetic testing may be a useful tool in diagnosing this condition.

• Clinical resources and genetic tests from US labs may be available for dHMN5 [12].
• Genetic testing may be used to diagnose specific inherited peripheral neuropathies, including potentially dHMN5 [6].
• The exact diagnostic tests available for autosomal recessive distal hereditary motor neuronopathy 5 are not explicitly stated in the provided context.

Based on the provided context, it appears that there are some potential treatment options being explored for autosomal recessive distal hereditary motor neuronopathy 5 (HMNR5).

According to search result [7], an autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes has material basis in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.

However, search result [6] mentions that recent therapeutic advances in hereditary neuropathy include the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered therapeutics. This suggests that there may be some potential for treatment of HMNR5 using similar approaches.

Additionally, search result [4] mentions that a recent study has identified sorbitol dehydrogenase (SORD) gene mutations as the most common cause of recessive axonal distal motor neuropathy accounting for up to 10% of undiagnosed cases of dHMN and CMT2. This may indicate that there are some potential treatment options being explored for this related condition.

It's worth noting that these findings suggest that there is ongoing research into the treatment of hereditary motor neuronopathies, including HMNR5. However, more specific information on drug treatments for autosomal recessive distal hereditary motor neuronopathy 5 is not readily available in the provided context.

Potential Treatment Options:

• Lipid nanoparticle sequestered antisense oligonucleotides
• Lipid nanoparticle delivered therapeutics

Related Conditions:

• Recessive axonal distal motor neuropathy caused by SORD gene mutations
• CMT1A and other related hereditary motor neuronopathies

Based on the provided context, it appears that autosomal recessive distal hereditary motor neuronopathy (HMNR1) is a rare genetic disorder characterized by progressive muscle weakness and wasting. The differential diagnosis for this condition involves considering other neuromuscular disorders that may present with similar symptoms.

• Juvenile forms of amyotrophic lateral sclerosis: These conditions can be caused by variations in the same genes as HMNR1, making them a potential differential diagnosis (Context #11).
• Hereditary spastic paraplegia: This condition can also be considered in the differential diagnosis, particularly if there are pyramidal tract signs present (Context #11).
• Distal hereditary motor neuropathies (dHMN): These conditions share similar clinical features with HMNR1 and may require genetic testing to distinguish between them (Context #12).

It's essential to note that a comprehensive differential diagnosis for autosomal recessive distal hereditary motor neuronopathy 5 would involve considering other neuromuscular disorders, including but not limited to those mentioned above.

References: * [11] Context #11 * [12] Context #12