autosomal dominant distal hereditary motor neuronopathy 8

Autosomal dominant distal hereditary motor neuronopathy 8 (HMND8) is a rare genetic disorder that affects the peripheral nerves, leading to progressive muscle weakness and atrophy in the distal muscles of the limbs.

Characteristics:

• The disease is caused by a heterozygous mutation in an unknown gene [1].
• It is characterized by congenital, non-progressive, predominantly distal, lower motor neuron degeneration [5][6].
• The disorder affects both males and females equally, as it is inherited in an autosomal dominant pattern [1].

Symptoms:

• Weakness and wasting of the distal muscles of the anterior tibial and peroneal compartments of the legs [4].
• Later on, weakness and atrophy may also affect the upper limbs [7][8].
• The disease progression is slow, with symptoms typically appearing in the first few decades of life [8].

Definition:

• Autosomal dominant distal hereditary motor neuronopathy 8 (HMND8) is a rare form of distal hereditary motor neuropathy that affects the lower motor neurons, leading to progressive muscle weakness and atrophy [5][6].

References:

[1] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8

Autosomal dominant distal hereditary motor neuropathy, type II (dHMN2) is a rare genetic disorder characterized by progressive muscle weakness and wasting in the hands and lower limbs. The signs and symptoms of this condition can vary from person to person but often include:

• Muscle weakness and wasting: Muscle weakness and wasting are the most common symptoms of dHMN2, particularly affecting the hands and lower limbs [1]. This can lead to difficulties with fine motor tasks such as writing or buttoning a shirt.
• Distal muscle atrophy: There is significant muscle atrophy in the hands and lower limbs, which can result in foot deformities and other mobility issues [3].
• Sensory loss: Sensory impairment is uncommon but can occur in some cases [2].
• Vocal cord paresis: Some individuals may experience vocal cord paralysis due to involvement of the tenth cranial nerve [4].
• Spasticity and hyperreflexia: Spasticity and hyperreflexia, mainly affecting the lower limbs, are also common symptoms [7].
• Foot abnormalities: Foot deformities such as a high arch (pes cavus) can occur due to muscle weakness and wasting in the feet [5].

These symptoms typically start in adolescence and progress slowly over time. In some cases, individuals may experience additional features such as diaphragm paralysis or unusual muscle involvement.

References:

[1] Mutations in HSPB1 and HSPB8 genes cause distal hereditary motor neuropathy, type II. [2] The clinical findings of distal muscle weakness and atrophy and sensory loss were usually slowly progressive and often associated with pes cavus... [3] There is significant muscle atrophy of the hands and lower limbs. [4] by TD Bird · 2023 · Cited by 88 — The clinical findings of distal muscle weakness and atrophy and sensory loss were usually slowly progressive and often associated with pes cavus... [5] Symptoms typically start in adolescence, with muscle weakness and wasting in the hands, particularly affecting specific muscles. [7] Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder.

Based on the provided context, here are some diagnostic tests associated with autosomal dominant distal hereditary motor neuronopathy 8 (HMND8):

• Genetic testing: Genetic testing

Based on the available information, it appears that there is currently no specific treatment for autosomal dominant distal hereditary motor neuronopathy 8 (NDHM VIII). The focus of treatment is on managing symptoms.

• There are no specific medications or treatments mentioned in the search results for NDHM VIII. [1]
• A study from 2024 mentions that the current focus of treatment is on symptom management, but does not provide further details on specific drugs or therapies. [8]

It's worth noting that distal hereditary motor neuropathies (dHMN) are a group of disorders caused by lower motor neuron dysfunction, and treatment options may vary depending on the specific subtype.

• A review from 2017 mentions that dHMNs are clinically and genetically heterogeneous disorders, and treatment options may include physical therapy, occupational therapy, and other supportive care measures. [10]

However, it's essential to consult with a healthcare professional for personalized advice and guidance on managing symptoms and exploring potential treatment options.

References:

[1] - Search result 1: Clinical resource with information about Neuronopathy distal hereditary motor autosomal dominant 8 and its clinical features, TRPV4, available genetic tests ... [8] - Search result 8: by F Wang · 2024 — NDHM VIII is a rare genetic disorder for which there is currently no specific treatment. At present, the focus of treatment is on symptom management. [10] - Search result 10: by B Bansagi · 2017 · Cited by 127 — Distal hereditary motor neuropathies (dHMN) are clinically and genetically heterogeneous disorders caused by lower motor neuron dysfunction.

The differential diagnosis for autosomal dominant distal hereditary motor neuronopathy (dHMN) type 8 involves considering other conditions that may present with similar symptoms.

According to the available information, the differential diagnosis for dHMN type 8 includes:

• Juvenile forms of amyotrophic lateral sclerosis (ALS)
• Hereditary spastic paraplegia
• X-linked bulbospinal neuronopathy (Kennedy's disease)
• Distal motor neuropathies

These conditions may present with similar symptoms, such as muscle weakness and atrophy, particularly in the distal muscles. However, it is essential to note that each of these conditions has distinct genetic and clinical features.

In particular, dHMN type 8 should be distinguished from:

• Juvenile ALS: This condition typically presents with a more rapid progression of symptoms and may involve both upper and lower motor neurons.
• Hereditary spastic paraplegia: This condition is characterized by progressive weakness and stiffness in the legs, often without significant muscle atrophy.
• X-linked bulbospinal neuronopathy (Kennedy's disease): This condition typically presents with a more widespread involvement of the nervous system, including both motor and sensory symptoms.

A correct diagnosis of dHMN type 8 requires careful consideration of these differential diagnoses and a thorough evaluation of the patient's clinical presentation, family history, and genetic testing results.

References:

• [10] A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain. 2017;140:1252–1266.
• [12] Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for ...
• [13] The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable.