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Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

MedGen UID:
375113
Concept ID:
C1843183
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth disease, Type 4A, axonal form; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE; CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
 
Gene (location): GDAP1 (8q21.11)
 
Monarch Initiative: MONDO:0011898
OMIM®: 607706

Authors:
Thomas D Bird   view full author information

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Ulnar claw
MedGen UID:
871311
Concept ID:
C4025799
Congenital Abnormality
An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Onion bulb formation
MedGen UID:
376237
Concept ID:
C1847906
Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Impaired distal vibration sensation
MedGen UID:
381262
Concept ID:
C1853767
Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
346872
Concept ID:
C1858285
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Decreased motor nerve conduction velocity
MedGen UID:
388130
Concept ID:
C1858729
Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Axonal degeneration/regeneration
MedGen UID:
368889
Concept ID:
C1968790
Finding
A pattern of simultaneous degeneration and regeneration of axons (see comment).
Impaired distal tactile sensation
MedGen UID:
867225
Concept ID:
C4021583
Finding
A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
Decreased distal sensory nerve action potential
MedGen UID:
870474
Concept ID:
C4024920
Finding
A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.
Peripheral axonal degeneration
MedGen UID:
871339
Concept ID:
C4025830
Finding
Progressive deterioration of peripheral axons.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Proximal muscle weakness in lower limbs
MedGen UID:
356423
Concept ID:
C1866010
Finding
A lack of strength of the proximal muscles of the legs.
Proximal muscle weakness in upper limbs
MedGen UID:
356424
Concept ID:
C1866012
Finding
A lack of strength of the proximal muscles of the arms.
Neuropathic spinal arthropathy
MedGen UID:
1814635
Concept ID:
C5702564
Disease or Syndrome
A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Vocal cord paresis
MedGen UID:
155888
Concept ID:
C0751576
Disease or Syndrome
Decreased strength of the vocal folds.

Professional guidelines

PubMed

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251

Recent clinical studies

Etiology

Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T
Neurogenetics 2018 May;19(2):67-76. Epub 2018 Feb 2 doi: 10.1007/s10048-018-0539-7. PMID: 29396836
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251

Diagnosis

Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T
Neurogenetics 2018 May;19(2):67-76. Epub 2018 Feb 2 doi: 10.1007/s10048-018-0539-7. PMID: 29396836
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251
Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P
Neuromuscul Disord 2003 Nov;13(9):720-8. doi: 10.1016/s0960-8966(03)00093-2. PMID: 14561495

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