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Hereditary Motor Sensory Neuropathy

Title               

Ñ    Hereditary Motor Sensory Neuropathy (HMSN, Charcot-Marie-Tooth Disease, Peroneal Muscular Atrophy)

Definition

Types

Ñ    HMSN I:

Autosomal dominant, early onset, skeletal deformity common

Ñ    HMSN II:

Autosomal dominant commonly, less severe course, confined to lower limbs, skeletal deformity less common

Ñ    HMSN III:

Dejerrine-Sottas disease, severe slowly progressive disease, onset in childhood

Aetiology

Ñ    Usually autosomal dominant

Pathogenesis

Ñ    Type I and III cause demyelination

Ñ    Type II causes axonal degeneration

Clinical Features

History

Age

Ñ    Adolescence or early adulthood

Sex

Ñ    Males = Females

CNS

Ñ    Slowly progressive weakness

Ñ    No numbness:

Usually

Family History

Ñ    Positive family history

Examination

CNS

Ñ    Distal wasting:

Inverted champagne bottle appearance

Ñ    Distal weakness

Ñ    Absent reflexes

Ñ    Decreased vibration sense and proprioception

Ñ    Sensory gait ataxia

Ñ    Romberg’s positive

Ñ    Thickened peripheral nerves

LMS

Ñ    Pes cavus

Investigations

Fluids

Blood

Genetics

Ñ    Available for some types

EMG

Ñ    Nerve conduction velocity:

Decreased

Tissue Diagnosis

Nerve Biopsy

Ñ    Rarely needed, shows demyelination or axonal degeneration depending on type

Management

Support

Surgery

Ñ    Correct deformities

Staffing

Ñ    Physiotherapy

Prevention

Lifestyle Adjustments

Ñ    Genetic counselling

Prognosis

Ñ    Does not shorten expected life span:

Usually

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