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hereditary sensory and motor neuropathy/asthénie
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Diaphragmatic weakness in hereditary motor and sensory neuropathy.
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Six patients severely affected by hereditary motor and sensory neuropathy (HMSN), four type I and two type II, had clinical evidence of diaphragmatic weakness. One presented with cardiorespiratory failure secondary to nocturnal hypoventilation, and three others were unable to lie flat because of
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
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A 32 year old woman with Dejerine-Sottas disease and negative family history is reported. Clinical onset of her condition was with congenital weakness of her distal four extremities, accompanied by peripheral facial nerve weakness, deafness, and nystagmus. She has used a wheelchair all her life.
[A case of hereditary motor and sensory neuropathy with vocal cords palsy and diaphragmatic weakness].
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A case of hereditary motor and sensory neuropathy (HMSN) type 1 (Charcot-Marie-Tooth disease (CMT)) is reported with vocal cords palsy, deafness, diaphragmatic weakness, and cerebellopontine atrophy. A 42-year-old man was admitted to our hospital in April, 1991 with marked respiratory distress. He
[Muscular weakness, muscular atrophy, sensory disturbances, motor ataxia, articulation oculomotor and deglutition disorders and lingual atrophy: Dejerine-Sottas disease].
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Diaphragmatic weakness in hereditary motor and sensory neuropathy.
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The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
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Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families
Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.
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The neuronal forms of hereditary motor and sensory neuropathy (HMSN) are genetically heterogeneous with observed autosomal dominant, autosomal recessive and X-linked dominant inheritance. All three forms are characterized by degeneration of select populations of motor and sensory neurons with
[A case of hereditary motor and sensory neuropathy type I with optic atrophy, neural deafness and pyramidal tract signs].
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A case of hereditary motor and sensory neuropathy (HMSN) type I with optic atrophy, neural deafness and pyramidal tract signs was described. The patient was a 53-year-old man who had suffered from difficulty in walking, decreased visual acuity since age 16 years. These symptoms were slowly
Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.
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A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of
[Respiratory disorders in type-1 hereditary motor and sensory neuropathy].
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Type-1 hereditary motor and sensory neuropathy (HMSN I) is a slowly progressive disease resulting in distal muscle weakness with atrophy, and in sensory disturbance. Restrictive lung disease and respiratory muscle failure, common in many advanced neuromuscular disorders, is not a predominant feature
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.
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In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy - Lom (HMSNL). were found They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.
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In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy -Lom (HMSNL), were found. They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
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A novel peripheral neuropathy of autosomal recessive inheritance has been identified in Balkan Gypsies and termed hereditary motor and sensory neuropathy-Russe (HMSN-R). We investigated 21 affected individuals from 10 families. Distal lower limb weakness began between the ages of 8 and 16 years,
Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication.
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The demyelinating type of hereditary motor and sensory neuropathy (HMSN I) is characterized by progressive weakness and atrophy of leg muscles. Six patients (age, 25-79 yr) belonging to three generations had calf hypertrophy (6 of 6), foot drop or difficulty with heel walking (4 of 6), pes cavus (3
Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood.
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Eleven cases of a severe neuropathy with onset in early childhood are described. The condition commences with distal weakness and wasting of the lower limbs and subsequently involves the hands, causing severe paralysis of the hands and feet towards the end of the second decade. Sensory changes are
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