Presentation
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease Fadic R ; Russell JA ; Vedanarayanan VV ; Lehar M ; Kuncl RW ; Johns DR | 1997 Accès au résumé PubMed / to PubMed abstract Plus d'information... [myobase.org]
Entire Body System
- Constitutional Symptom
symptom Exercise intolerance Fatigue Myalgia Ear malformation Progressive hearing impairment IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading [ncbi.nlm.nih.gov]
- Fatigue
[…] the nervous system Areflexia Cerebral atrophy Dementia Depression Dysarthria Dysphonia Gait disturbance Global developmental delay Hyporeflexia Parkinsonism Seizure Sensory ataxia Sensory axonal neuropathy Constitutional symptom Exercise intolerance Fatigue [ncbi.nlm.nih.gov]
- Developmental Delay
delay Hyporeflexia Parkinsonism Seizure Sensory ataxia Sensory axonal neuropathy Constitutional symptom Exercise intolerance Fatigue Myalgia Ear malformation Progressive hearing impairment IMPORTANT NOTE: NIH does not independently verify information [ncbi.nlm.nih.gov]
Musculoskeletal
- Proximal Muscle Weakness
[…] fibers EMG: myopathic abnormalities Multiple mitochondrial DNA deletions Progressive muscle weakness Proximal muscle weakness Ragged-red muscle fibers Subsarcolemmal accumulations of abnormally shaped mitochondria Abnormality of the nervous system Areflexia [ncbi.nlm.nih.gov]
- Myalgia
[…] nervous system Areflexia Cerebral atrophy Dementia Depression Dysarthria Dysphonia Gait disturbance Global developmental delay Hyporeflexia Parkinsonism Seizure Sensory ataxia Sensory axonal neuropathy Constitutional symptom Exercise intolerance Fatigue Myalgia [ncbi.nlm.nih.gov]
Neurologic
- Dysarthria
[…] mitochondrial DNA deletions Progressive muscle weakness Proximal muscle weakness Ragged-red muscle fibers Subsarcolemmal accumulations of abnormally shaped mitochondria Abnormality of the nervous system Areflexia Cerebral atrophy Dementia Depression Dysarthria [ncbi.nlm.nih.gov]
Ajouter au panier Article Sensory ataxic neuropathy with dysarthria and ophtalmoplegia mitochondriopathy (abstract : congrès international de Myologie, 2005) Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005 [myobase.org]
- Global Developmental Delay
developmental delay Hyporeflexia Parkinsonism Seizure Sensory ataxia Sensory axonal neuropathy Constitutional symptom Exercise intolerance Fatigue Myalgia Ear malformation Progressive hearing impairment IMPORTANT NOTE: NIH does not independently verify [ncbi.nlm.nih.gov]
- Areflexia
[…] muscle fibers EMG: myopathic abnormalities Multiple mitochondrial DNA deletions Progressive muscle weakness Proximal muscle weakness Ragged-red muscle fibers Subsarcolemmal accumulations of abnormally shaped mitochondria Abnormality of the nervous system Areflexia [ncbi.nlm.nih.gov]
- Hyporeflexia
[…] muscle weakness Ragged-red muscle fibers Subsarcolemmal accumulations of abnormally shaped mitochondria Abnormality of the nervous system Areflexia Cerebral atrophy Dementia Depression Dysarthria Dysphonia Gait disturbance Global developmental delay Hyporeflexia [ncbi.nlm.nih.gov]
- Seizure
[…] muscle fibers Subsarcolemmal accumulations of abnormally shaped mitochondria Abnormality of the nervous system Areflexia Cerebral atrophy Dementia Depression Dysarthria Dysphonia Gait disturbance Global developmental delay Hyporeflexia Parkinsonism Seizure [ncbi.nlm.nih.gov]