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Neuronopathy, distal hereditary motor, type 2A(HMN2A; DHMN2A)

MedGen UID:
322471
Concept ID:
C1834692
Disease or Syndrome
Synonyms: CHARCOT-MARIE-TOOTH DISEASE, SPINAL, IIA; Distal Hereditary Motor Neuronopathy, Type IIA; HMN IIA; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIA; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIA; SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, HARDING TYPE IIA
 
Gene (location): HSPB8 (12q24.23)
 
Monarch Initiative: MONDO:0008025
OMIM®: 158590

Definition

Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.

Some individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.

Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe. [from MedlinePlus Genetics]

Clinical features

From HPO
Hyporeflexia of lower limbs
MedGen UID:
371881
Concept ID:
C1834696
Finding
Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
Distal lower limb muscle weakness
MedGen UID:
324514
Concept ID:
C1836450
Finding
Reduced strength of the distal musculature of the legs.
Areflexia of lower limbs
MedGen UID:
347285
Concept ID:
C1856694
Finding
Inability to elicit tendon reflexes in the lower limbs.
Paralysis
MedGen UID:
105510
Concept ID:
C0522224
Finding
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
EMG: neuropathic changes
MedGen UID:
867363
Concept ID:
C4021727
Finding
The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
Paresis of extensor muscles of the big toe
MedGen UID:
871217
Concept ID:
C4025696
Finding

Recent clinical studies

Diagnosis

Santoro L, Manganelli F, Di Maio L, Barbieri F, Carella M, D'Adamo P, Casari G
Neuromuscul Disord 2002 May;12(4):399-404. doi: 10.1016/s0960-8966(01)00305-4. PMID: 12062259

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