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Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group of motor neuron diseases that result from genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of the spinal cord and subsequent muscle atrophy.
Neuropathy disorders usually have onset in childhood or young adulthood. Motor symptoms seem to be more predominant than sensory symptoms. [2] Symptoms of these disorders include: fatigue, pain, lack of balance, lack of feeling, lack of reflexes, and lack of sight and hearing, which result from muscle atrophy.
Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs.
Country Fire Authority There are two types of response for the Country Fire Authority which cover the outer Melbourne Area. These are similar to those used by Ambulance Victoria, minus the use of Code 2. Code 1: A time critical event with response requiring lights and siren. This usually is a known and going fire or a rescue incident.
Distal hereditary motor neuropathy type V is a particular type of neuropathic disorder. In general, distal hereditary motor neuropathies affect the axons of distal motor neurons and are characterized by progressive weakness and atrophy of muscles of the extremities. [ 1 ]
CMT2D is one of 31 CMT2 variants, and is only diagnosed if sensory deficits (such as loss of sensation due to the degradation of sensory axons) are observed along with motor deficits; otherwise, distal hereditary motor neuropathy type V is diagnosed. It is unknown why sensory involvement is so varied between GARS1 neuropathy patients. [28]
Distal hereditary motor neuronopathy type 6 (DHMN6) 604320: IGHMBP2: 11q13.3: Autosomal recessive: Affects mainly infant boys, similar to SMA type 1 but with diaphragmatic paralysis Distal spinal muscular atrophy type 2 (DSMA2) Distal hereditary motor neuronopathy – Jerash type (DHMN-J) 605726: SIGMAR1: 19p13.3: Autosomal recessive: Slowly ...
Compression neuropathy; Congenital distal spinal muscular atrophy; Congenital facial diplegia; Color blindness; Cornelia de Lange syndrome; Corticobasal degeneration; Cotard delusion; Cranial arteritis; Craniosynostosis; Creutzfeldt–Jakob disease; Cumulative trauma disorders; Cushing's syndrome; Cyclic vomiting syndrome; Cyclothymic disorder