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Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined

MedGen UID:
337104
Concept ID:
C1844863
Disease or Syndrome
Synonym: Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
 
Monarch Initiative: MONDO:0010553
OMIM®: 302900

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Diabetic ketoacidosis
MedGen UID:
8351
Concept ID:
C0011880
Disease or Syndrome
A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Concentric hypertrophic cardiomyopathy
MedGen UID:
68651
Concept ID:
C0238044
Finding
Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Steppage gait
MedGen UID:
98105
Concept ID:
C0427149
Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Abnormal EKG
MedGen UID:
105507
Concept ID:
C0522055
Finding
Abnormal rhythm of the heart.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Hammertoe
MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Weakness of the intrinsic hand muscles
MedGen UID:
322432
Concept ID:
C1834536
Finding
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Impaired proprioception
MedGen UID:
346424
Concept ID:
C1856691
Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position.
Mitochondrial malic enzyme reduced
MedGen UID:
383965
Concept ID:
C1856697
Finding
Intrinsic hand muscle atrophy
MedGen UID:
351202
Concept ID:
C1864716
Finding
Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Reduced tendon reflexes
MedGen UID:
356648
Concept ID:
C1866934
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Muscular subvalvular aortic stenosis
MedGen UID:
854407
Concept ID:
C3887554
Anatomical Abnormality
A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.
Abnormality of peripheral nerve conduction
MedGen UID:
866458
Concept ID:
C4020690
Finding
An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).
Abnormal medulla oblongata morphology
MedGen UID:
866796
Concept ID:
C4021148
Anatomical Abnormality
An abnormality of the medulla oblongata, the lower half of the brainstem.
Morphological abnormality of the pyramidal tract
MedGen UID:
892809
Concept ID:
C4021761
Anatomical Abnormality
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
Tibialis anterior muscle atrophy
MedGen UID:
868961
Concept ID:
C4023375
Finding
Wasting of the tibialis anterior muscle.
Abnormality of the dorsal column of the spinal cord
MedGen UID:
868962
Concept ID:
C4023376
Anatomical Abnormality
An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.
Tibialis muscle weakness
MedGen UID:
870178
Concept ID:
C4024612
Finding
Muscle weakness affecting the tibialis anterior muscle.
Decreased pyruvate carboxylase activity
MedGen UID:
871167
Concept ID:
C4025641
Finding
A decreased rate of pyruvate carboxylase activity.
Abnormality of the spinocerebellar tracts
MedGen UID:
871173
Concept ID:
C4025647
Anatomical Abnormality
An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.

Recent clinical studies

Etiology

Werdelin L, Keiding N
Neuroepidemiology 1990;9(6):321-31. doi: 10.1159/000110795. PMID: 2096315
Gyldensted C, Pedersen L
Neuroradiology 1978;16:327-8. doi: 10.1007/BF00395291. PMID: 745705

Prognosis

Werdelin L, Keiding N
Neuroepidemiology 1990;9(6):321-31. doi: 10.1159/000110795. PMID: 2096315

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