Sign-in (or register) to check out the new features we've just launched!

Disease Information for Peroneal muscular atrophy(Charcot Mar.)

Clinical Manifestations
Signs & Symptoms
Adolescent
Distal leg weakness
Distal Muscle Weakness
Muscle atrophy/wasting
Stork leg
Symmetrical muscle/pain, weakness
Thenar muscle wasting
Weak hand grip
Weakness, legs, bilateral
Absent knee reflexes
Anesthetic hypoesthetic limbs/areas
Ankle reflexes absent
Ankle reflexes decreased
Ataxia
Bilateral foot drop/signs
Foot drop paralysis
Gait disturbance/abnormality
Glove/stocking hypesthesia
Hypesthesia
Hyporeflexia/DTRs decreased
Motor and sensory neuropathy/Polyneuropathy signs
Muscle atrophy lower extremities/Bilateral
Paresthesias
Steppage gait
Weak lower extremities
Weak reflexes
Foot deformity
High arches/foot/sign
Wasting/Atrophy
Weakness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Adolescence/puberty
Onset/Childhood
Demographics & Risk Factors
Population Group
Young Adult
Family History
Family history/Gait disorders
Sex & Age Groups
Population/Adolescent
Population/Adult/all
Population/Young adult
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
DNA/Test specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
Electrodiagnosis
Nerve Conduction Study Abnormal ENG
Nerve Conduction Study/Abnormal time
Nerve Conduction Study/Slowing
Associated Diseases & Rule outs
Rule Outs
Friedreich's Ataxia
Associated Disease & Complications
Charcot neuroarthropathic joint
Neuropathy
Peroneal muscular atrophy/Charcot Marie Tooth
Pes cavus/High Arched Foot
Ulnar entrapment neuropathy
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 10q21.1-q22.1
Pathophysiology/Gene locus 16p13.3-p12
Pathophysiology/Gene locus 17p11.2
Pathophysiology/Gene locus 1q22
Pathophysiology/Gene locus 21q22
Pathophysiology/Gene locus 3q21
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene locus Chromosome 17
Pathophysiology/Gene locus Chromosome 17p
Pathophysiology/Gene locus chromosome 21
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene Locus chromosome 3q
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xp22.2
Pathophysiology/Gene locus Xq13.1
Pathophysiology/Gene locus Xq26
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Delayed nerve conduction velocity
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Atrophic disorders (ex)
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Disease with two subtypes
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Hereditory motor/sensory neuropathy (ex)
Synonyms
Synonym
Atrophies Peroneal Muscular, atrophy Charcot Marie Tooth, Atrophy Muscular Peroneal, Atrophy Peroneal Muscular, CHARCOT MARIE DIS, Charcot Marie Disease, Charcot Marie Tooth, CHARCOT MARIE TOOTH ATROPHY, CHARCOT MARIE TOOTH DIS, CHARCOT MARIE TOOTH DISEASE, Charcot Marie Tooth disease (disorder), Charcot Marie Tooth muscular atrophy, Charcot Marie Tooth syndrome, CMT Charcot Marie Tooth dis, CMT Charcot Marie Tooth disease, Marie Charcot Tooth, Muscular Atrophies Peroneal, Muscular Atrophy Peroneal, Peroneal Muscular Atrophies, peroneal muscular atrophy, Peroneal muscular atrophy (disorder), Peroneal muscular atrophy syndrome, Synonym/Charcot-Marie-Tooth atrophy, Synonym/HMSN Type I
Treatment
Drug Therapy - Indication
RX/No effective/definitive treatment yet available
Definition

Peroneal muscular atrophy is a hereditary motor and sensory neuropatrhy; usual onset with progressive distal lower extremity wasting with classic steppage gait from bilateral foot drop; sensory changes occur and motor neuropathy eventually invoves the hands and arms; onset in puberty -------------------------------------------------------------

Charcot-Marie-Tooth disease; Charcot-Marie syndrome;

Charcot-Marie-Tooth-Hoffmann disease; Charcot-Marie-Tooth-Hoffmann syndrome; Tooth muscular atrophy; Tooth’s syndrome;

Atrophia musculorum progressiva neurotica sive neuralis; hereditary motor and sensory neuropathy I (HMSN I); neuropathic muscular atrophy, peroneal muscle atrophy;

A syndrome characterized by slowly progressive wasting and weakness of distal muscle of the arms and feet, caused by degeneration of the peripheral nerves, nerve roots, and even the spinal cord, with loss of reflexes, loss of cutaneous sensations and develeopment of foot drop; Optic atrophy is sometimes present; Usually develops in childhood or adolescence and progresses slowly, but may occur in adults; more common in males than in females; Its cause is unknown; The affected child has normal intelligence, and a normal life span; It is transmitted as an autosomal dominant or recessive trait in some families and as X-linked trait in others; Relatively rare syndrome;

(Edit)

External Links Related to Peroneal muscular atrophy(Charcot Mar.)
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)