Hereditary distal spinal muscular atrophy with vocal cord paralysis.

Hereditary neuropathy and vocal cord paralysis in a man with childhood diphtheria

“…Our patient appears to have had a progressive form of peroneal muscular atrophy which, given the sensory loss, involvement of his brother, and axonal physiology demonstrated on NCS and EMG, qualifies for the diagnosis of HMSN type II. The age of onset is typical of the type II variant, and is similar to that of cases reported by Dyck et al 5 and Young and Harper, 33 which could explain the associated VCP. Nevertheless, it is possible that this patient could have had an inherited neuropathy in addition to a VCP of unrelated cause.…”

“…However, lifespan was shortened in a few individuals due to aspiration or ventilatory problems, in contrast to other forms of hereditary motor and sensory neuropathy, HMSN I and HMSN II. 4 As in the cases of Young and Harper, 33 involvement of the distal arms usually preceded that of the legs and was more prominent, with variable penetrance. Sensory loss was common, but not universal (i.e., only in the 7 more severely affected patients), and was asymptomatic.…”

“…Dyck et al drew a parallel between the clinical presentation of their cases and those of Young and Harper, 33 and hypothesized that many of the cases previously diagnosed as SMA variants could instead be HMSN variants that would have demonstrated sensory involvement at later stages.…”

“…9 Young and Harper, in 1980, described a large kindred with an autosomal dominantly inherited syndrome of progressive distal muscular wasting and weakness associated with VCP. 33 This typically began in the second decade with atrophy of intrinsic hand muscles, and was generally more prominent in the arms, later progressing to the legs, with distal predominance. Deep tendon reflexes were variably lost, and sensation was notably intact.…”

TRPV4 axonal neuropathy spectrum disorder

“…An explanation for the selective involvement of the recurrent laryngeal nerve in this group of neuropathies is not clear. VCP is not unique to TRPV4 neuropathies but is also a prominent feature of the autosomal dominant conditions, distal hereditary motor neuronopathy type VII A and B, 27,28 and the autosomal recessive form of axonal CMT due to mutations in GDAP1. 29 The selective involvement of the recurrent laryngeal branch of the vagus nerve in these conditions has been the subject of much speculation and is generally considered to result from the fact that the recurrent laryngeal nerve is the longest of the cranial nerves and thus vulnerable to degeneration in length-related neuropathies.…”