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Autosomal dominant spinocerebellar degeneration. Appears in early childhood and progresses slowly.

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Roussy-Levy Hereditary Areflexic Dystasia; Lévy-Roussy Syndrome; Symonds-Shaw Syndrome; Abortive type of Friedreich Disease; Familial Claw-Foot with Absent Tendon Jerks; Hereditary Areflexic Dystasia; Hereditary Ataxia-Muscular Atrophy Syndrome.

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Autosomal dominant.

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Not exactly known; spinocerebellar degeneration.

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Association of truncal ataxia, lower limb muscular atrophy, bilateral pes cavus, and loss of deep reflexes.

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Symptoms first appear in early childhood and progress slowly throughout life with moderate disability. Beyond ataxia, loss of reflexes, and muscular atrophy, clinical features can include scoliosis, absent leg tendon jerks, distal sensory loss, static hand tremor, abnormal gait, and slow peripheral nerve conduction velocity. Absence of cerebellar signs, speech disturbances, Babinski sign, and nystagmus.

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Evaluate muscular weakness (clinical) and neurological function (clinical, EMG, somatosensory evoked potentials, nervous conduction speed).

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Careful intraoperative monitoring. Regional anesthesia is not contraindicated; however, complete information about the risks involved has to be clearly expressed by the physician and understood by the patient/parents. Similar to most cases of Friedreich Ataxia, somatosensory evoked potential intraoperative monitoring during scoliosis surgery should be impossible.

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Avoid succinylcholine because of the risk of hyperkalemia as a consequence of muscle denervation.

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Friedreich Ataxia (FRDA): A genetic disorder characterized by a progressive dysfunction of the posterior spinal cord, the cerebellum (ataxia, nystagmus), and peripheral nerves. It typically becomes apparent by adolescence. Clinical features include unsteady posture, frequent falling, progressive ataxia characterized by foot deformities, increasing incoordination of the arms and hands, dysarthria, and nystagmus. It may also be associated with cardiomyopathy, chest pain, arrythmias, and diabetes mellitus. All patients have normal intelligence.

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Charcot-Marie-Tooth Disease: A hereditary polyneuropathy condition presenting with distal weakness and muscular atrophy (myopathy). The most common complaint is distal leg weakness, which manifests as frequent tripping and muscle atrophy. Hand involvement follows in most cases. Pregnancy may exacerbate a preexisting weakness in 50% of patients with early-onset disease.

Auer-Grumbach M, Strasser-Fuchs S, Wagner K, et al: Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. J Neurol Sci 154:72, 1998.  [PubMed: 9543325]
Roussy G, Lévy G: Sept cas d'une maladie familiale particulière: Troubles de la marche, pieds bots et aréflexie tendineuse généralisée, avec, accessoirement, légère maladresse des mains. Rev Neurol (Paris) 1:427, 1926.

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