Neurologic exam revealed thinning of the anterior legs, bilateral calf hypertrophy, neck flexor and extensor weakness, distal greater than proximal weakness in the legs, and proximal weakness in the arms. CK level was mildly elevated at 318 U/L. [neurology.org]

This disease also causes intense weakness in the thorax muscles involved in breathing, particularly the diaphragm. This weakness leads to respiratory problems and respiratory failure that can be potentially fatal. [ivami.com]

This weakness worsens over time and can lead to life-threatening respiratory failure. [ghr.nlm.nih.gov]

Pelvic and shoulder girdle weakness was the earliest and predominant sign in every patient, with several exceptions in the family from the U.K. which showed weakness in distal muscles at presentation. [bmcneurol.biomedcentral.com]

[…] muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria and dysphagia Facioscapulohumeral muscular dystrophy Approximately 4 per 100,000 population Face and arm weakness, scapular winging, and later [clevelandclinicmeded.com]

Among the earliest signs of the condition are breathing problems and difficulty walking. [ghr.nlm.nih.gov]

Distal muscles - difficulty walking (flapping gait), grasping, handwriting. Metabolic myopathies present with: Difficulty with exercise. [patient.info]

Signs and symptoms [ edit ] Some early signs of HIBMs includes: Difficulty walking on heels, and difficulty running; Weak index finger; Frequent loss of balance. [en.wikipedia.org]

Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents. [books.google.com]

However, metabolic, inflammatory, toxic and endocrine myopathies present subacutely or even acutely and this requires awareness amongst front-line physicians to recognise and diagnose myopathy. [patient.info]

Toxic and cachectic myopathies: eg, acute alcoholic myopathy with myoglobinuria, paraneoplastic myopathy, protein malnutrition, drugs (eg, steroids, statins, zidovudine, clofibrate, colchicine, cocaine). [patient.info]

In the process of genetic testing of patients with myofibrillar myopathy (MFM) we encountered familial and sporadic cases of skeletal myopathy with or without associated respiratory abnormalities who lack mutations in MFM-associated genes [ 26, 27 ]. [bmcneurol.biomedcentral.com]

muscle weakness Associated Genes TTN (Withdrawn symbols: CMD1G, CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD ) Mouse Orthologs Ttn (Withdrawn symbols: 1100001C23Rik, 2310036G12Rik, 2310057K23Rik, 2310074I15Rik, AF006999, AV006427, D330041I19Rik, D830007G01Rik [mousephenotype.org]

Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement. [clevelandclinicmeded.com]

Symmetrical proximal muscle weakness with absence of sensory symptoms (paraesthesia). Atrophy of muscles (and reduced reflexes) occurs late with myopathies (early with neuropathy). [patient.info]

Keywords Myopathy Respiratory failure HMERF Titin Titin A-band mutation Fibronectin type III Background Hereditary myopathy with early respiratory failure (HMERF) also known as Edström myopathy is a disorder manifesting with predominantly proximal muscle [bmcneurol.biomedcentral.com]

Differential Diagnosis Late-onset glycogen storage disease type II (GSD II) is characterized by proximal muscle weakness and respiratory insufficiency. Inheritance is autosomal recessive. [ncbi.nlm.nih.gov]

For distal leg weakness, use of ankle-foot orthoses can optimize independent ambulation. Later in the disease course other mobility aids such as canes, walkers, or wheelchairs may be required. [ncbi.nlm.nih.gov]

Progressive spastic paraplegia Paget’s disease of bone 33 Epidemiology: Dutch family VCP mutation: Arg159Cys Clinical Onset Age: 5th to 6th decade Gait disorder Spastic paraparesis Tendon reflexes: Increased in legs Spasticity: Legs Weakness: Distal [neuromuscular.wustl.edu]

In few others, the hands are weakened more rapidly than the legs. Weakness is progressive, which means the muscle becomes weaker over time. IBM2 does not seem to affect the brain, internal organs or sensation. [en.wikipedia.org]

Neurologic exam revealed thinning of the anterior legs, bilateral calf hypertrophy, neck flexor and extensor weakness, distal greater than proximal weakness in the legs, and proximal weakness in the arms. CK level was mildly elevated at 318 U/L. [neurology.org]

There was wasting of the trapezius, sternocleidomastoid and calf muscles, but each patient had initially bilateral calf hypertrophy (Table 1 ). [bmcneurol.biomedcentral.com]

In the muscular dystrophies, which tend to manifest in childhood or adolescence, dyspnea, cardiac abnormalities, contractures, scapular winging, calf hypertrophy, and skeletal deformities may be present in addition to slowly progressive weakness. [clevelandclinicmeded.com]

This process is usually due to mutations in the TTN (titin) gene, located on the long arm of chromosome 2 (2q31.2); however, in rare cases, people with the characteristics of HMERF do not have mutations identified in this gene and the cause of the disease [ivami.com]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

Two reports by Palmio et al 1 and Pfeffer et al 2 suggest that hereditary myopathy with early respiratory failure (HMERF) may not be rare and is distributed worldwide. [jnnp.bmj.com]

This suggests that the p.Arg32450Trp mutation affects the ability of titin to control muscle protein turnover and through this action disrupts muscle sarcomere maintenance. [bmcneurol.biomedcentral.com]

Acuteness of symptoms: Weakness over hours suggests a toxic cause or episodic paralysis. Weakness developing over days - consider dermatomyositis or rhabdomyolysis. Weakness over weeks suggests polymyositis, steroid myopathy, endocrine myopathy. [patient.info]

These results suggested that this rare mutation in TTN segregated with the disease in this family. [nature.com]

Some affected individuals have weakness of muscles of the lower leg and foot, which makes it difficult to lift the toes while walking, a condition known as foot drop. [ghr.nlm.nih.gov]

drop Hypotonia Weakness: Intrafamilial variation Legs Ankle dorsiflexion: Often severe with foot drop Hanging big toe Proximal muscles may be involved Neck: Sternocleidomastoids & Neck flexors Hands Finger (esp 5th) & Wrist extensors Onset age: 3rd to [neuromuscular.wustl.edu]

Her gait was waddling and she had bilateral foot drop. No muscle atrophies or hypertrophies were observed (Table 1 ). CK levels were 2-fold-increased. [bmcneurol.biomedcentral.com]

drop can be through the use of Ankle Foot Orthoses (AFOs) which can be designed or selected by an Orthotist based upon clinical need of the individual. [en.wikipedia.org]

GNE-related myopathy (IBM2) typically presents in the late teens to early adulthood with slowly progressive distal muscle weakness involving gait disturbance and foot drop secondary to anterior tibialis muscle weakness. [invitae.com]

Electro diagnostic study showed evidence of a generalized myopathy with irritability. MRI of the lower extremities revealed characteristic fatty infiltration mostly affecting the semitendinosus, quadriceps, and tibialis anterior muscles. [neurology.org]

Variable in families: Some patients severely disabled, others mildly affected Respiratory failure: Some patients Tendon reflexes: Absent Pes cavus Tremor (30%) Laboratory Seum CK: Normal, or Mildly elevated (Up to 4x) EMG: Mixed features Myogenic & Irritable [neuromuscular.wustl.edu]

Waddling gait of Duchenne muscular dystrophy at age 3-6 years is typical. Acuteness of symptoms: Weakness over hours suggests a toxic cause or episodic paralysis. Weakness developing over days - consider dermatomyositis or rhabdomyolysis. [patient.info]

gait; Foot drop Hypotonia Weakness: Intrafamilial variation Legs Ankle dorsiflexion: Often severe with foot drop Hanging big toe Proximal muscles may be involved Neck: Sternocleidomastoids & Neck flexors Hands Finger (esp 5th) & Wrist extensors Onset [neuromuscular.wustl.edu]