What is Hereditary Motor Neuropathies?

Hereditary Motor Neuropathies
Hereditary Motor Neuropathies. Mutations associated with human diseases in hTRPV4-ARD. (A) Positions of mutations associated with human inherited diseases that lie withinhTRPV4-ARD. Abbreviations: SEDM, spondyloepiphyseal dysplasia, typeMaroteaux; SMDK, spondylometaphyseal dysplasia, type Kozolowski; MD,metatropic dysplasia; SMA, spinal muscular atrophy; SPMA, scapuloperonealspinal muscular atrophy; CMTC2, Charcot-Marie-Tooth disease type 2C; HMSN2C, hereditary motor and sensory neuropathy 2C. This figure was inspired by ref (51). (B) Location of the disease-causing mutations within TRPV4-ARD.Shown as spheres are 12 residue positions at which a total of 15 mutations causing human inherited diseases have been identified. The ATP molecules are shown as sticks. Skeletal dysplasia and neuropathy mutations are depicted as green and blue spheres, respectively. (C) Leu199 is located at the hydrophobic interface between ANK2 and ANK3. (D) Glu183 andArg232 form a salt bridge on the convex face of TRPV4-ARD. Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel: Inada H, Procko E, Sotomayor M, Gaudet R - Biochemistry (2012). Not altered. CC.

Hereditary motor neuropathies is a progressive disorder of the nervous system that mostly affects the spinal cord.

What is the Pathology of Hereditary Motor Neuropathies?

The pathology of hereditary motor neuropathies is:

-Etiology: The cause of hereditary motor neuropathies is the malfunction of the heat shock proteins known as beta-1 and beta-8 triggered by mutation of the HSPB1 and HSPB8 genes.

-Genes involved: HSPB1, HSPB8 genes.

-Pathogenesis: The sequence of events that lead to hereditary motor neuropathies are atypical degeneration and development of the neural tissues. 

-Morphology: NA.

-Histology: The histology associated with hereditary motor neuropathies shows onion bulb formation on the affected nerve. 

How does Hereditary Motor Neuropathies Present?

Patients with hereditary motor neuropathies typically are males present at the age range of childhood and young adulthood. The symptoms, features, and clinical findings associated with hereditary motor neuropathies include fatigue, pain, lack of balance, loss of sensation, loss of hearing and sight, loss of reflexes.

How is Hereditary Motor Neuropathies Diagnosed? 

Hereditary motor neuropathies are diagnosed with physical exam and history taking, electromyography, and genetic testing.

How is Hereditary Motor Neuropathies Treated? 

Hereditary motor neuropathies are treated by physical therapy, use of braces, orthopedic surgery.

What is the Prognosis of Hereditary Motor Neuropathies?

The prognosis of hereditary motor neuropathies is fair since the symptoms occur later in life after the disease has progressed.

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Last updated on May 23, 2022